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+ Genes 511

Genes:
ABHD17A, ACACB, ACADS, ACAP1, ACLY, ACSM2A, ACSM4, ACTN3, ACTN4, ACTR8, ACVR1, ACYP2, ADA, ADAM8, ADAMTS13, ADAMTS7, ADCY10, ADH1C, ADRA1D, ADRBK1, AGAP3, AGAP6, AKR1B10, AKR1C1, ALAD, ALDH3B1, ALDH4A1, ALG9, ALKBH3, ALOX15B, ANAPC1, ANKDD1B, APC, AQP2, ARHGEF5, ARSB, ARSD, ASAP3, ASIC4, ASMTL, ASS1, ATG9B, ATP6V1B1, ATP8B3, B3GNT6, BARD1, BCR, BIRC2, BMP8B, C10orf113, C11orf21, C11orf40, C14orf177, C17orf100, C1orf177, C5orf20, C9orf152, C9orf89, CA2, CA6, CA8, CAMK2B, CAPN8, CASP8, CBR3, CCDC129, CCDC144NL, CCDC61, CCHCR1, CD180, CD200R1L, CD207, CD93, CDC27, CDCP2, CDH24, CEP164, CEP170, CFTR, CHI3L1, CHI3L2, CHIA, CHIT1, CHRFAM7A, CKB, CLC, CLDN5, CLECL1, CLTCL1, CNOT1, CNTN5, CNTNAP3B, COL14A1, COL26A1, COMT, COPZ2, CPB2, CPNE1, CPOX, CREB3L1, CRIPAK, CRYBA4, CRYZ, CSF1R, CSK, CSNK1G2, CTBP2, CTD-3193O13.9, CTDSP2, CTPS1, CXXC11, CYFIP2, CYP11B2, CYP21A2, CYP2A6, CYP2A7, CYP2B6, CYP2C9, CYP2D6, CYP2R1, CYP3A5, CYTH3, DCAF7, DDR1, DEFB108B, DEFB126, DHRS4, DHRS4L2, DIXDC1, DNAH11, DNAH9, DOC2A, DPP6, DPYSL2, DSP, DUSP5, EBLN2, ECHDC3, ECHS1, EFCAB13, EGFR, EI24, EMG1, ENPP4, EP300, EPHB3, ERAP1, ERAP2, ERCC1, ERCC6L2, ERN1, ERVW-1, ESRRA, EVL, FAM104B, FAM136A, FAM166B, FAM186A, FAM187B, FAM228B, FAM231B, FAM8A1, FAM96A, FAN1, FASN, FCER2, FDFT1, FGF20, FGFR2, FGFRL1, FLG2, FOXD1, FOXD4L3, FOXD4L5, FRG1, FRG2B, FRG2C, FSIP2, FUT2, G2E3, GABRR3, GDPD4, GGT1, GIMAP2, GJB2, GNRH2, GOLGA6L1, GOLGA6L2, GOLGA6L6, GPATCH4, GRIN3B, GRN, GSTA1, GXYLT1, H2BFM, HAAO, HBB, HCN2, HGF, HIBCH, HIF1AN, HK2, HLA-A, HLA-B, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-G, HMGCS1, HPGDS, HRNR, HSH2D, HSPA2, HYDIN, IDO2, IGSF3, IL17RB, IL34, ILK, INA, INPP5E, IQSEC1, ISG15, ITIH5, JMJD1C, KDM2A, KDM8, KIF19, KIR2DL4, KISS1, KMT2B, KMT2C, KPNA2, KRAS, KRBA1, KRT24, KRTAP13-2, KRTAP19-6, KRTAP2-2, KRTAP4-8, KRTAP5-5, KTI12, LAMP3, LAPTM4B, LCN15, LENG9, LEPREL2, LGALS8, LGR5, LMTK3, LRP6, LRP8, LRRC4, LRRIQ1, LTN1, MAGEB16, MAL2, MALT1, MAML3, MAP2K3, MAP3K15, MAP3K8, MAPK11, MAPK12, MAPK8IP2, MAT1A, MB21D1, MDP1, MEFV, METTL21C, METTL8, MICA, MINA, MMP10, MMP28, MOB3C, MROH6, MS4A12, MS4A14, MUC3A, MUC4, MUC6, MUS81, MYL1, MYO5B, MYOM1, MZT2A, NCAM1, NCOR1, NEK2, NET1, NEU2, NFATC2, NLRC3, NLRP8, NLRX1, NME3, NOP16, NPIPB15, NPRL3, NPSR1, NQO1, NRP1, NSUN4, NTRK1, NUDT11, NUDT18, NXF1, OAS2, OASL, OBP2A, OPLAH, OR10AD1, OR10X1, OR11G2, OR1B1, OR2B11, OR2D3, OR2L8, OR2T12, OR2T35, OR2T4, OR4C16, OR4C3, OR4L1, OR4X1, OR51F1, OR51Q1, OR52B4, OR52D1, OR5AC2, OR5AR1, OR5K3, OR5K4, OR6C76, OR6Q1, OR8K1, OR8U1, P2RX5, PABPC3, PADI2, PCK1, PCMTD1, PCSK6, PCSK9, PDCD6, PDE10A, PDE1B, PDE4B, PDE4DIP, PFKP, PGPEP1L, PGR, PHPT1, PIK3R6, PIR, PLA2G7, PLCB3, PLCD3, PLEKHA2, PLK1, PLXNC1, PNPT1, POLDIP2, POLRMT, POM121C, PPARG, PPP1R9B, PPP2R1A, PRAMEF1, PRDM15, PRDM2, PRIM1, PRIM2, PRKDC, PRKRA, PRMT6, PRODH, PRSS1, PRSS3, PRSS48, PSAT1, PSG1, PSORS1C2, PSPH, PTBP1, PTCHD3, PTGR2, PTPN6, PVRIG, RAI1, RALGAPA1, RBBP4, RBMX, RECQL4, RHBG, RHPN2, RIBC2, RIPK1, RNF145, RNF207, RNF8, ROS1, RPA1, RRM1, RYK, SARM1, SAT2, SBK3, SCAMP1, SCAPER, SCARF2, SCRN3, SEC14L4, SENP3, SERPINA10, SERPINB11, SERPINB5, SETD6, SHARPIN, SIGLEC12, SIRPA, SIRPB1, SIRT5, SLAIN1, SLC22A10, SLC22A24, SLC22A9, SLC25A5, SLC27A3, SLC35G6, SLC41A3, SLC46A1, SLC6A18, SLC7A13, SLC9B1, SND1, SNRNP200, SNX17, SNX9, SON, SORL1, SPATA31A3, SPATC1, SRA1, SRSF8, STK10, SULT2A1, TAAR2, TAAR9, TAS2R19, TBP, TCEAL6, TCP11, TDG, TELO2, TEX13A, TGIF1, TGM2, TGOLN2, THEM5, TIGD6, TLR3, TLR5, TMBIM4, TMED7-TICAM2, TMEM120A, TMPRSS11A, TNFRSF6B, TNFSF10, TNFSF15, TOP3A, TP73, TPH2, TPST2, TPTE, TRADD, TRAP1, TRDMT1, TRPV4, TSGA10IP, TSHZ1, TSPAN10, TTC28, TTC4, UBE3D, UBXN11, UNC93A, USP17L10, USP2, USP29, USP4, VSIG10L, VWF, WAPAL, WARS, WNK1, XYLB, ZADH2, ZAN, ZFPM1, ZFYVE19, ZNF117, ZNF480, ZNF516, ZNF527, ZNF626, ZNF681, ZNF717, ZNF80, ZNF880,

+ Genes associated with diseases 125

Genes at Omim

ACADS, ACTN3, ACTN4, ACVR1, ADA, ADAMTS13, ADCY10, ADH1C, ALAD, ALDH4A1, ALG9, APC, AQP2, ARSB, ASS1, BARD1, BCR, CA2, CA8, CAMK2B, CASP8, CD207, CEP164, CFTR, CHI3L1, COMT, CPOX, CREB3L1, CRYBA4, CSF1R, CTPS1, CYFIP2, CYP11B2, CYP21A2, CYP2A6, CYP2B6, CYP2C9, CYP2D6, CYP2R1, CYP3A5, DNAH11, DNAH9, DPP6, DSP, ECHS1, EGFR, EMG1, EP300, ERCC1, ERCC6L2, FAN1, FDFT1, FGF20, FGFR2, FLG2, FSIP2, FUT2, GGT1, GJB2, GRN, HAAO, HBB, HGF, HIBCH, HLA-A, HLA-B, HLA-DQB1, HLA-DRB1, HLA-G, HYDIN, IGSF3, INPP5E, ISG15, KISS1, KMT2B, KMT2C, KRAS, LRP6, LRP8, MALT1, MAP3K8, MAT1A, MEFV, MYO5B, NEK2, NPRL3, NPSR1, NQO1, NTRK1, OPLAH, PCK1, PCSK9, PDE10A, PGR, PLA2G7, PNPT1, PPARG, PPP2R1A, PRKDC, PRKRA, PRODH, PRSS1, PSAT1, PSPH, RAI1, RBMX, RECQL4, RIPK1, SCAPER, SCARF2, SLC46A1, SNRNP200, SON, TBP, TELO2, TGIF1, TLR3, TLR5, TOP3A, TPH2, TRPV4, TSHZ1, VWF, WARS, WNK1,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASS1 Citrullinemia, 215700 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CASP8 Hepatocellular carcinoma, somatic, 114550 (3)
{Lung cancer, protection against}, 211980 (3)
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
{Breast cancer, protection against}, 114480 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRYBA4 Cataract 23, 610425 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CTPS1 Immunodeficiency 24, 615897 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2C9 Tolbutamide poor metabolizer (3)
Warfarin sensitivity, 122700 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
CYP3A5 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FLG2 Peeling skin syndrome 6, 618084 (3)
FSIP2 Spermatogenic failure 34, 618153 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GJB2 Bart-Pumphrey syndrome, 149200 (3)
Hystrix-like ichthyosis with deafness, 602540 (3)
Deafness, autosomal dominant 3A, 601544 (3)
Deafness, autosomal recessive 1A, 220290 (3)
Keratitis-ichthyosis-deafness syndrome, 148210 (3)
Keratoderma, palmoplantar, with deafness, 148350 (3)
Vohwinkel syndrome, 124500 (3)
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
Aphasia, primary progressive, 607485 (3)
Ceroid lipofuscinosis, neuronal, 11, 614706 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HGF Deafness, autosomal recessive 39, 608265 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
MALT1 Immunodeficiency 12, 615468 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PGR ?Progesterone resistance, 264080 (2)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPARG Carotid intimal medial thickness 1, 609338 (3)
Lipodystrophy, familial partial, type 3, 604367 (3)
Insulin resistance, severe, digenic, 604367 (3)
Obesity, severe, 601665 (3)
[Obesity, resistance to] (3)
{Diabetes, type 2}, 125853 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PRKRA Dystonia 16, 612067 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SON ZTTK syndrome, 617140 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TLR5 {Legionnaire disease, susceptibility to}, 608556 (3)
{Melioidosis, susceptibility to}, 615557 (3)
{Systemic lupus erythematosus, resistance to}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ACVR1, ADA, ADAMTS13, ALAD, ALDH4A1, ALG9, APC, AQP2, ARSB, ASS1, ATP6V1B1, BARD1, BCR, CA2, CA8, CASP8, CD207, CEP164, CFTR, CHIT1, COMT, CPOX, CREB3L1, CRYBA4, CSF1R, CTPS1, CYP11B2, CYP21A2, CYP2A6, CYP2B6, CYP2C9, CYP2D6, CYP2R1, CYP3A5, DNAH11, DPP6, DSP, ECHS1, EGFR, EMG1, EP300, ERCC1, ERCC6L2, FAN1, FGF20, FGFR2, GJB2, GRN, HBB, HGF, HIBCH, HLA-A, HLA-B, IGSF3, INPP5E, ISG15, KISS1, KRAS, LRP6, MALT1, MAT1A, MEFV, MYO5B, NEK2, NTRK1, OPLAH, PCSK9, PDE10A, PLA2G7, PNPT1, PPARG, PPP2R1A, PRKDC, PRKRA, PRODH, PRSS1, PSAT1, PSPH, RAI1, RBMX, RECQL4, SCARF2, SLC46A1, SNRNP200, TBP, TGIF1, TLR3, TRAP1, TRPV4, TSHZ1, VWF, WNK1, ZNF480,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTN4 Focal segmental glomerulosclerosis 1
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASS1 Citrullinemia
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
BCR CML treatment, response to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CASP8 Caspase 8 defiency
CD207 Birbeck granule deficiency
CEP164 Nephronophthisis 15
CFTR Cystic fibrosis
CHIT1 Chitotriosidase deficiency
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CREB3L1 Osteogenesis imperfecta, type XVI
CRYBA4 Cataract 23
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CTPS1 Immunodeficiency 24
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP2C9 Drug metabolism, CYP2C9-related
CYP2D6 Drug metabolism, CYP2CD6-related
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
CYP3A5 Drug metabolism, CYP3A5-related
DNAH11 Ciliary dyskinesia, primary, 7
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EMG1 Bowen-Conradi syndrome
EP300 Rubinstein-Taybi syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC6L2 Bone marrow failure syndrome 2
FAN1 Interstitial nephritis, karyomegalic
FGF20 Renal hypodysplasia/aplasia 2
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
GJB2 Deafness, autosomal recessive 1A
Deafness, digenic
Hystrix-like ichthyosis with deafness
Deafness, autosomal dominant 3A
Bart-Pumphrey syndrome
Keratoderma, palmoplantar, with deafness
Vohwinkel syndrome
Keratitis-icthyosis-deafness syndrome
GRN Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related
Neuronal ceroid lipofuscinosis 11
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HGF Deafness, autosomal recessive 39
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
IGSF3 Lacrimal duct defect
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ISG15 Immunodeficiency 38, with basal ganglia calcification
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LRP6 Coronary artery disease, autosomal dominant 2
MALT1 Immunodeficiency 12
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MYO5B Diarrhea 2, with microvillus atrophy
NEK2 Retinitis pigmentosa 67
NTRK1 Insensitivity to pain, congenital, with anhidrosis
OPLAH 5-oxoprolinase deficiency
PCSK9 Hypercholesterolemia, familial, 3
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PNPT1 Deafness, autosomal recessive 70
PPARG Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
PPP2R1A Mental retardation, autosomal dominant 36
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PRKRA Dystonia 16
PRODH Hyperprolinemia, type I
PRSS1 Pancreatitis, hereditary
PSAT1 Phosphoserine aminotransferase deficiency
PSPH Phosphoserine phosphatase deficiency
RAI1 Smith-Magenis syndrome
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SCARF2 Van den Ende-Gupta syndrome
SLC46A1 Folate malabsorption, hereditary
SNRNP200 Retinitis pigmentosa 33
TBP Spinocerebellar ataxia 17
TGIF1 Holoprosencephaly 4
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
TSHZ1 Aural atresia, congenital
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 725
Number of Genes: 511

Export to: CSV

ABHD17A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 19 rs762199778
dbSNP Clinvar 		1881526 181.6 AG A basic_indel_filter 0/1 103 FRAME_SHIFT HIGH None None None None None None ABHD17A|0.044405191|64.37%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 19 rs768141721
dbSNP Clinvar 		1881528 181.6 AAG A basic_indel_filter 0/1 103 FRAME_SHIFT HIGH None None None None None None ABHD17A|0.044405191|64.37%

ACACB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 12 rs11065772
dbSNP Clinvar 		109617865 954.6 T C PASS 0/1 105 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 12 rs3914
dbSNP Clinvar 		121174899 2837.03 T C PASS 1/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs3809828
dbSNP Clinvar 		7246851 2386.6 C T PASS 0/1 162 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.05331 0.05331 0.04275 None None None None None None ACAP1|0.086299912|53.89%

ACLY
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs8065502
dbSNP Clinvar 		40048613 1747.6 A G PASS 0/1 140 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACSM2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 16 rs1700805
dbSNP Clinvar 		20488696 1633.03 A G basic_snp_filter 1/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACSM4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 12 rs7485773
dbSNP Clinvar 		7475081 2999.03 C T PASS 1/1 105 STOP_GAINED HIGH NONSENSE 0.04852 0.04852 0.05974 None None None None None None ACSM4|0.022577905|72.89%

ACTN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs1815739
dbSNP Clinvar 		66328095 4597.03 T C PASS 1/1 163 STOP_LOST HIGH MISSENSE 0.59924 0.59920 0.35908 None None None None None None None

ACTN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 19 rs3745859
dbSNP Clinvar 		39196745 723.6 C T PASS 0/1 80 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ACTR8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 3 rs4687757
dbSNP Clinvar 		53906513 3274.03 G A PASS 1/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%

ACVR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs1146031
dbSNP Clinvar 		158626980 2279.03 C T PASS 1/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ACYP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs1363061
dbSNP Clinvar 		54284441 862.6 G A PASS 0/1 98 STOP_GAINED HIGH NONSENSE 0.08966 0.08966 None None None None None None ACYP2|0.067344086|58.08%

ADA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 20 rs244076
dbSNP Clinvar 		43252915 928.6 T C PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 20 rs394105
dbSNP Clinvar 		43264927 3547.03 C T PASS 1/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 10 rs1131720
dbSNP Clinvar 		135085321 563.6 C T PASS 0/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 9 rs3124768
dbSNP Clinvar 		136304497 1913.6 A G PASS 0/1 150 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTS7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 15 rs781638345
dbSNP Clinvar 		79058183 238.64 T TT... PASS 0/1 112 FRAME_SHIFT HIGH 0.02791 None None None None None None ADAMTS7|0.010836867|80.23%

ADCY10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs203849
dbSNP Clinvar 		167849414 1229.6 A G PASS 0/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADH1C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 4 rs283413
dbSNP Clinvar 		100268190 1807.6 A C PASS 0/1 132 STOP_LOST HIGH MISSENSE 0.99281 0.99280 0.00839 None None None None None None None

ADRA1D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 20 . 4229458 38.6 GC G PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None ADRA1D|0.152836614|42.55%

ADRBK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs2228418
dbSNP Clinvar 		67034266 1341.03 C A PASS 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs552859803
dbSNP Clinvar 		150783908 301.02 C CG PASS 1/1 5 FRAME_SHIFT HIGH 0.99880 0.99880 None None None None None None AGAP3|0.094196358|52.32%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs539642617
dbSNP Clinvar 		150783900 86.64 C CG PASS 0/1 7 FRAME_SHIFT HIGH 0.99880 0.99880 0.03750 None None None None None None AGAP3|0.094196358|52.32%

AGAP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 10 rs141217862
dbSNP Clinvar 		51768674 4181.6 CAA C PASS 0/1 229 FRAME_SHIFT HIGH 0.11801 0.11800 None None None None None None AGAP6|0.003119632|88.45%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 10 rs555930275
dbSNP Clinvar 		51748528 190.64 A AC basic_indel_filter 0/1 98 FRAME_SHIFT HIGH None None None None None None AGAP6|0.003119632|88.45%

AKR1B10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs28545160
dbSNP Clinvar 		134221826 213.6 A G PASS 0/1 89 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None AKR1B10|0.014962544|77.15%

AKR1C1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 10 rs1138600
dbSNP Clinvar 		5010572 923.03 A G basic_snp_filter 1/1 31 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

ALAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 9 rs1139488
dbSNP Clinvar 		116153900 915.6 A G PASS 0/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ALDH3B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs58160034,rs397695802
dbSNP Clinvar 		67789293 7296.06 G GC PASS 1/1 194 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs11436139,rs58238184
dbSNP Clinvar 		67795378 3251.06 G GC PASS 1/1 93 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs2230705
dbSNP Clinvar 		19203997 1450.6 C G PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs2230708
dbSNP Clinvar 		19201956 1027.6 A G PASS 0/1 103 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs7550938
dbSNP Clinvar 		19202917 2065.6 T C PASS 0/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%

ALG9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs10708475
dbSNP Clinvar 		111742145 2242.03 CG C PASS 1/1 56 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs1048928
dbSNP Clinvar 		43940644 3237.03 G T PASS 1/1 116 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs9898751
dbSNP Clinvar 		7950952 945.6 C A PASS 0/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs76589243
dbSNP Clinvar 		7942901 783.6 C G PASS 0/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs6503070
dbSNP Clinvar 		7948175 721.6 C T PASS 0/1 65 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs11541083
dbSNP Clinvar 		7950377 1368.6 C T PASS 0/1 130 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%

ANAPC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs72936240
dbSNP Clinvar 		112614429 83.6 G A basic_snp_filter 0/1 69 STOP_GAINED HIGH NONSENSE None None None None None None ANAPC1|0.14646446|43.53%

ANKDD1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 5 rs34358
dbSNP Clinvar 		74965122 2655.03 G A PASS 1/1 89 STOP_GAINED HIGH NONSENSE 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

APC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 5 rs41115
dbSNP Clinvar 		112175770 2502.6 G A PASS 0/1 166 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 5 rs2229992
dbSNP Clinvar 		112162854 928.6 T C PASS 0/1 103 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

AQP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 12 rs426496
dbSNP Clinvar 		50348078 3251.03 T C PASS 1/1 119 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARHGEF5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs766185415
dbSNP Clinvar 		144059763 501.64 A AT... PASS 0/1 136 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None ARHGEF5|0.018074391|75.24%

ARSB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 5 rs1071598
dbSNP Clinvar 		78181423 1554.6 C T PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10863 0.10860 0.13701 0.19 0.12 None None None None None None ARSB|0.08485524|54.24%

ARSD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered X rs111939179
dbSNP Clinvar 		2833605 1170.6 C T PASS 0/1 119 STOP_GAINED HIGH NONSENSE None None None None None None ARSD|0.001611053|92.29%

ASAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs115515935
dbSNP Clinvar 		23763449 1262.6 G A PASS 0/1 125 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04992 0.04992 0.07377 None None None None None None ASAP3|0.049734125|62.74%

ASIC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs753003654
dbSNP Clinvar 		220402676 778.6 C T PASS 0/1 76 STOP_GAINED HIGH NONSENSE None None None None None None ASIC4|0.158324569|41.82%

ASMTL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered X rs3183025
dbSNP Clinvar 		1554649 4311.6 T C PASS 0/1 202 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.38478 0.38480 0.37514 None None None None None None ASMTL|0.001996891|91.03%

ASS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 9 rs10901072
dbSNP Clinvar 		133346226 3181.03 C T PASS 1/1 119 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10723 0.10720 0.12402 None None None None None None ASS1|0.463790404|17.47%

ATG9B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs11393607,rs77573754
dbSNP Clinvar 		150713902 5966.06 G GC PASS 1/1 159 FRAME_SHIFT HIGH 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATP6V1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs11681642
dbSNP Clinvar 		71163086 1649.03 T C PASS 1/1 58 START_LOST HIGH MISSENSE 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

ATP8B3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 19 rs60482625
dbSNP Clinvar 		1783027 1520.6 T C PASS 0/1 131 STOP_LOST HIGH MISSENSE 0.08966 0.08966 0.09237 None None None None None None ATP8B3|0.003576519|87.64%

B3GNT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs11292198,rs796338514
dbSNP Clinvar 		76751541 3498.03 CT C PASS 1/1 94 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs11292200,rs796140348
dbSNP Clinvar 		76751603 5196.03 CT C PASS 1/1 119 FRAME_SHIFT HIGH 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs11292199
dbSNP Clinvar 		76751584 5097.03 CT C PASS 1/1 113 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

BARD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs2070094
dbSNP Clinvar 		215632255 4070.03 C T PASS 1/1 91 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.36621 0.36620 0.28064 0.12 0.03 None None None None None None BARD1|0.230178617|33.35%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs2070093
dbSNP Clinvar 		215632256 4070.03 A G PASS 1/1 91 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

BCR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 22 rs372013175
dbSNP Clinvar 		23653975 1821.64 T TCCGG PASS 0/1 151 FRAME_SHIFT HIGH None None None None None None BCR|0.805888971|5.65%

BIRC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs182906329
dbSNP Clinvar 		102221633 886.6 T C PASS 0/1 73 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00160 0.00160 0.00085 None None None None None None BIRC2|0.570972743|12.93%

BMP8B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 . 40254138 84.6 GG... G PASS 0/1 12 FRAME_SHIFT+START_LOST HIGH None None None None None None BMP8B|0.042910691|64.83%

C10orf113
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 10 rs72102767,rs45546236
dbSNP Clinvar 		21435340 2436.6 ACACT A PASS 0/1 126 FRAME_SHIFT HIGH 0.25160 0.25160 0.19292 None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%

C11orf21
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs188839109
dbSNP Clinvar 		2323089 1206.6 C T PASS 0/1 114 START_LOST HIGH MISSENSE 0.00559 0.00559 0.01007 0.00 0.00 None None None None None None C11orf21|0.000478003|98.55%

C11orf40
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs141600462
dbSNP Clinvar 		4592706 1665.64 T TAC PASS 0/1 143 FRAME_SHIFT HIGH 0.42640 None None None None None None C11orf40|0.000863852|96.27%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs71280817
dbSNP Clinvar 		4592708 1915.64 C CAG PASS 0/1 143 FRAME_SHIFT HIGH 0.57612 None None None None None None C11orf40|0.000863852|96.27%

C14orf177
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 14 rs139827156,rs373583218
dbSNP Clinvar 		99182526 1255.6 TG... T PASS 0/1 89 START_LOST+CODON_CHANGE_PLUS_CODON_DELETION HIGH 0.02676 0.02676 0.04731 None None None None None None C14orf177|0.000297765|99.42%

C17orf100
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs56268735,rs397697335
dbSNP Clinvar 		6555546 4212.06 C CG PASS 1/1 119 FRAME_SHIFT HIGH 0.99980 0.99980 0.00401 None None None None None None C17orf100|0.00636282|84.22%

C1orf177
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs200062276
dbSNP Clinvar 		55279486 1025.64 G GA PASS 0/1 75 FRAME_SHIFT HIGH 0.00779 0.00779 None None None None None None C1orf177|0.008674961|81.97%

C5orf20
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 5 rs12520799
dbSNP Clinvar 		134782450 6534.03 T A PASS 1/1 216 STOP_GAINED HIGH NONSENSE 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C9orf152
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 9 rs201081105
dbSNP Clinvar 		112969744 2077.6 AT A PASS 0/1 103 FRAME_SHIFT HIGH 0.00958 0.00959 0.01358 None None None None None None C9orf152|0.005537676|85.17%

C9orf89
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 9 rs17593496
dbSNP Clinvar 		95872885 1886.6 C T PASS 0/1 126 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.05950 0.05950 0.11333 None None None None None None C9orf89|0.045771213|63.96%

CA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 8 rs703
dbSNP Clinvar 		86389403 2937.03 T C PASS 1/1 100 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs2274330
dbSNP Clinvar 		9009470 1654.6 G C PASS 0/1 140 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26218 0.26220 0.23935 None None None None None None CA6|0.001337936|93.66%

CA8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 8 rs7464181
dbSNP Clinvar 		61178574 2359.03 T C PASS 1/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CAMK2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs11542228
dbSNP Clinvar 		44282868 2452.6 A G PASS 0/1 112 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs11542227
dbSNP Clinvar 		44282877 2485.6 A G PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%

CAPN8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs34606532
dbSNP Clinvar 		223722780 2260.03 G A PASS 1/1 73 STOP_GAINED HIGH NONSENSE 0.44349 0.44350 0.45642 None None None None None None CAPN8|0.042652474|64.89%

CASP8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs3769824
dbSNP Clinvar 		202122956 689.6 T C PASS 0/1 69 START_LOST HIGH MISSENSE 0.03454 0.03454 0.03279 0.00 None None None None None None CASP8|0.814767746|5.46%

CBR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 21 rs881712
dbSNP Clinvar 		37507769 1892.6 C T PASS 0/1 139 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 21 rs881711
dbSNP Clinvar 		37507745 4701.03 C T PASS 1/1 159 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CCDC129
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 7 rs567140275,rs35589779
dbSNP Clinvar 		31697913 109.64 C CT PASS 0/1 36 FRAME_SHIFT HIGH 0.35923 0.35920 None None None None None None CCDC129|0.005928551|84.65%

CCDC144NL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs79930314
dbSNP Clinvar 		20769899 5081.6 G T PASS 0/1 199 STOP_GAINED HIGH NONSENSE None None None None None None CCDC144NL|0.000779475|96.79%

CCDC61
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 19 . 46519426 428.6 CG C PASS 0/1 29 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None CCDC61|0.034771259|67.54%

CCHCR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 6 rs3130453
dbSNP Clinvar 		31124849 2347.6 C T PASS 0/1 183 STOP_GAINED HIGH NONSENSE 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CD180
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 5 rs1697144
dbSNP Clinvar 		66480004 5237.03 T C PASS 1/1 164 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CD200R1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 3 rs58161637
dbSNP Clinvar 		112545910 1903.6 GT G PASS 0/1 134 FRAME_SHIFT HIGH 0.16793 0.16790 0.25348 None None None None None None CD200R1L|0.000888221|96.09%

CD207
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 2 rs11450450,rs397692276
dbSNP Clinvar 		71062833 5701.06 G GC PASS 1/1 153 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CD93
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 20 . 23066468 32.64 T TGGGC basic_indel_filter 0/1 94 FRAME_SHIFT HIGH None None None None None None CD93|0.003918213|87.15%

CDC27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 . 45214613 7552.6 TA T PASS 0/1 334 FRAME_SHIFT HIGH None None None None None None CDC27|0.658499283|9.78%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs138264973
dbSNP Clinvar 		45214617 6976.64 G GC PASS 0/1 322 FRAME_SHIFT HIGH None None None None None None CDC27|0.658499283|9.78%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 . 45232087 519.64 T TAC PASS 0/1 109 FRAME_SHIFT HIGH None None None None None None CDC27|0.658499283|9.78%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs796572277
dbSNP Clinvar 		45232102 426.6 A C PASS 0/1 105 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs62077264
dbSNP Clinvar 		45234360 40727.6 A C CNN_1D_SNP_Tranche_99.95_100.00 0/1 1142 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 rs199899451
dbSNP Clinvar 		45234721 1170.6 T A PASS 0/1 117 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 17 . 45234748 696.64 C CC... PASS 0/1 77 FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None CDC27|0.658499283|9.78%

CDCP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 1 rs36013100
dbSNP Clinvar 		54605319 9234.06 G GC PASS 1/1 240 FRAME_SHIFT HIGH 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%

CDH24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 14 rs753422808
dbSNP Clinvar 		23523727 776.64 T TG PASS 0/1 93 FRAME_SHIFT HIGH 0.00152 None None None None None None CDH24|0.171918773|40.07%

CEP164
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered 11 rs779666861
dbSNP Clinvar 		117222647 31.64 G GA basic_indel_filter 0/1 153 FRAME_SHIFT HIGH None None None None None None CEP164|0.276473275|29.41%