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+ Genes 496

Genes:
AC005609.1, ACACB, ACADS, ACLY, ACMSD, ACOT7, ACTN4, ACVR1, ADA, ADAMTS4, ADCK3, ADCY10, ADH1C, ADRBK1, AEN, AIMP2, AK7, AKAP3, AKR1C1, AKR1C2, ALAD, ALDH4A1, ALG9, ALPI, AMIGO1, ANKRD36C, AOAH, AOX1, AQP2, ARHGAP21, ARHGAP25, ARHGAP27, ARHGDIA, ARHGEF18, ARMC6, ARMS2, ASB10, ASPA, ATAD3A, ATP6V1B1, BARD1, BCAN, BCAR3, BICD1, BLVRB, BRF1, BRPF3, C10orf107, C10orf12, C12orf5, C14orf64, C19orf47, C1QTNF3, C1orf173, C3AR1, CA2, CA3, CA8, CAD, CAPG, CARM1, CASP12, CASP9, CBLB, CBLC, CBLL1, CBLN1, CBR3, CBS, CCDC101, CCDC108, CCDC64, CCER1, CD207, CD248, CD36, CDC25B, CDC27, CDCA7, CDK1, CFTR, CHD4, CHD5, CHI3L1, CHI3L2, CHIA, CHRFAM7A, CHURC1, CISD1, CLDN16, CLIC1, CLIC3, CLTCL1, CMYA5, COL22A1, COL6A5, COMT, COPB2, CPB2, CPEB4, CPED1, CPNE8, CPOX, CPSF1, CR1L, CRYBA4, CSF1R, CTBP2, CTDSP2, CYP2B6, CYP2D7P, CYP2F1, CYP2R1, CYP4B1, CYTH3, DAPK1, DAXX, DBI, DBX1, DCHS1, DCXR, DHRS2, DLGAP5, DLL4, DMBX1, DNAH11, DNALI1, DOC2A, DOK4, DPP6, DPP8, DPYSL2, DSP, DUX4L4, DYX1C1, EBI3, ECHS1, EFCAB12, EGFR, EHBP1L1, EIF2AK3, EIF5B, EMC7, EMG1, EP300, EPHA1, EPHA6, EPHX2, EPN2, ERAP1, ERCC1, ERP27, ESPL1, EXOC1, EXOC7, FAM214B, FAM43A, FAM58A, FARP2, FASN, FBXL8, FBXW10, FCGR2A, FDFT1, FGFR2, FLG2, FMNL3, FOLH1, FOXD4L3, FOXD4L5, FOXG1, FOXN3, FRG1, FRG1B, FUT2, GADL1, GALNS, GBA3, GBE1, GEMIN6, GGT1, GPR124, GSTA1, GZMB, H2BFM, H6PD, HAS1, HBB, HCN2, HERC2, HHIPL2, HIBCH, HK2, HMOX2, HSPA1A, HSPA2, HTR3E, HYDIN, IGFL3, IGSF1, IGSF9B, IKBKB, IL12B, IL17D, IL31, ILDR2, INMT, INPP5J, INPPL1, INTS2, IRGQ, ITIH2, ITPK1, ITPKB, JMJD1C, KCNA2, KCNC4, KCNN4, KCTD1, KDM4A, KDM5B, KHDC1L, KIF12, KIF27, KIF2A, KIF3A, KIR2DL4, KISS1, KLHDC8A, KLHL11, KLHL3, KLHL32, KMT2C, KRAS, KRT36, KRT37, KRT38, KRT76, KRTAP10-4, KRTAP10-8, LCN2, LENG8, LGALS2, LILRA1, LINC00955, LRP1B, LRP6, LRTM1, MAB21L2, MAP2K3, MAP4K4, MAPK12, MAT2A, MAT2B, MCM8, MED12L, MED28, MEFV, MEP1B, METTL2A, MICA, MINA, MISP, MKI67, MKRN1, MMAB, MMP21, MROH8, MS4A12, MSLNL, MTCH2, MTMR2, MUC17, MUC3A, MUC6, MUS81, MYEOV2, MYNN, NAV1, NBPF24, NBPF3, NBPF9, NCAM1, NCBP2, NCOA4, NDUFB9, NDUFS6, NEB, NEDD4, NLRP8, NLRX1, NME3, NMNAT3, NPSR1, NR1D2, NTSR1, NUDT22, NXT1, OAT, OBFC1, OPN4, OR1A1, OR4C11, OR4C3, OR4C5, OR51Q1, OR56B3P, OR6B3, OTOR, P2RX5, P2RY8, PABPC4, PALM3, PAPLN, PARP14, PARP4, PCDH12, PCDH17, PCDHGB6, PCGF5, PCID2, PCK1, PCSK9, PDE2A, PDE4B, PDLIM2, PELI1, PFKP, PGR, PIK3C3, PITPNM1, PLCB2, PLEKHA6, PLEKHG2, PLXNA4, PLXNB1, PLXNC1, PNPT1, POC1A, POLR2A, POLR3C, PPIF, PPP2R3B, PRAMEF1, PRB3, PRB4, PRKCZ, PRKDC, PRNP, PRRG2, PRSS3, PSAT1, PSMC4, PSPH, PTCHD3, PTGR2, PTPN6, PUS10, RABL2B, RADIL, RASGRP4, RCBTB2, RECQL4, RERE, RGN, RHPN2, RND1, RNF111, RNF167, RP11-1396O13.13, RP11-6L6.2, RP11-770J1.4, RPA1, RPUSD2, RRM1, RRS1, RTN4IP1, RUVBL2, SBK3, SBNO2, SCRN2, SEC14L3, SERPINB11, SERPINB2, SERPINI1, SETD3, SFXN3, SH3BGR, SHANK1, SIGLEC12, SIRT1, SLC16A8, SLC22A10, SLC25A46, SLC2A11, SLC36A3, SLC37A4, SLC46A1, SLU7, SMAD4, SNAP23, SND1, SNRNP200, SORL1, SPAG8, SPHK1, SPTY2D1, SRM, SSTR1, SSTR3, STARD13, STK40, SUFU, SULT1A2, SULT2A1, SUPT20H, SUPV3L1, SV2A, SYNJ2, SZT2, TAAR9, TAF6, TAS2R19, TBP, TCEB1, TCF3, THOP1, TICRR, TIMP1, TLR10, TLR3, TLR6, TM4SF5, TMEM164, TMEM175, TNFSF10, TNFSF15, TOMM70A, TP53TG5, TP73, TPH2, TPMT, TPRG1, TPTE, TRAP1, TRAV6, TSR1, TXLNG, TYK2, UBE4B, UGT2A1, ULK1, UMPS, UPF2, UROS, USP29, USP30, USP5, VARS, VILL, VWF, WAPAL, WDR5, WDR54, WDR7, WIPI2, WNK1, XDH, XYLB, YLPM1, ZAN, ZAP70, ZBTB14, ZC3H3, ZDHHC21, ZFHX2, ZNF132, ZNF160, ZNF33A, ZNF396, ZNF431, ZNF480, ZNF563, ZNF571, ZNF595, ZNF676, ZNF684, ZNF717, ZNF764, ZNF77, ZNF780B, ZNF814, ZNF862, ZSCAN25, ZZEF1, hsa-mir-1199,

+ Genes associated with diseases 132

Genes at Omim

ACADS, ACTN4, ACVR1, ADA, ADCK3, ADCY10, ADH1C, AIMP2, AK7, AKR1C2, ALAD, ALDH4A1, ALG9, AQP2, ARHGDIA, ARHGEF18, ASB10, ASPA, ATAD3A, BARD1, BRF1, CA2, CA8, CAD, CASP12, CBS, CD207, CD36, CDCA7, CFTR, CHD4, CHI3L1, CLDN16, COMT, COPB2, CPOX, CRYBA4, CSF1R, CYP2B6, CYP2R1, DCHS1, DCXR, DLL4, DNAH11, DPP6, DSP, ECHS1, EGFR, EIF2AK3, EMG1, EP300, EPHX2, ERCC1, FAM58A, FCGR2A, FDFT1, FGFR2, FLG2, FOXG1, FUT2, GALNS, GBE1, GGT1, H6PD, HBB, HERC2, HIBCH, HYDIN, IGSF1, IKBKB, IL12B, INPPL1, KCNA2, KCNN4, KCTD1, KDM5B, KIF2A, KISS1, KLHL3, KMT2C, KRAS, LGALS2, LRP6, MAB21L2, MCM8, MEFV, MMAB, MMP21, MTMR2, NDUFB9, NDUFS6, NEB, NPSR1, OAT, PCDH12, PCK1, PCSK9, PGR, PLCB2, PLEKHG2, PNPT1, POC1A, PRKDC, PRNP, PSAT1, PSPH, RECQL4, RERE, RTN4IP1, SERPINI1, SLC25A46, SLC37A4, SLC46A1, SMAD4, SNRNP200, SUFU, SZT2, TAF6, TBP, TCF3, TLR3, TPH2, TPMT, TYK2, UMPS, UROS, VARS, VWF, WNK1, XDH, ZAP70, ZFHX2,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (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)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AIMP2 Leukodystrophy, hypomyelinating, 17, 618006 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
AKR1C2 46XY sex reversal 8, 614279 (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)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARHGDIA Nephrotic syndrome, type 8, 615244 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ASPA Canavan disease, 271900 (3)
ATAD3A Harel-Yoon syndrome, 617183 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (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)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CASP12 {Sepsis, susceptibility to} (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CD36 {Malaria, cerebral, reduced risk of}, 611162 (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
Platelet glycoprotein IV deficiency, 608404 (3)
[Macrothrombocytopenia] (1)
{Coronary heart disease, susceptibility to, 7}, 610938 (3)
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (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)
CHD4 Sifrim-Hitz-Weiss syndrome, 617159 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
COPB2 ?Microcephaly 19, primary, autosomal recessive, 617800 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRYBA4 Cataract 23, 610425 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DCXR [Pentosuria], 260800 (3)
DLL4 Adams-Oliver syndrome 6, 616589 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (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)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (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)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
FAM58A STAR syndrome, 300707 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FDFT1 Squalene synthase deficiency, 618156 (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)
FOXG1 Rett syndrome, congenital variant, 613454 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GGT1 ?Glutathioninuria, 231950 (3)
H6PD Cortisone reductase deficiency 1, 604931 (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)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
IKBKB Immunodeficiency 15A, 618204 (3)
Immunodeficiency 15B, 615592 (3)
IL12B Immunodeficiency 29, mycobacteriosis, 614890 (3)
INPPL1 Opsismodysplasia, 258480 (3)
KCNA2 Epileptic encephalopathy, early infantile, 32, 616366 (3)
KCNN4 Dehydrated hereditary stomatocytosis 2, 616689 (3)
KCTD1 Scalp-ear-nipple syndrome, 181270 (3)
KDM5B Mental retardation, autosomal recessive 65, 618109 (3)
KIF2A Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (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)
LGALS2 {Myocardial infarction, susceptibility to}, 608446 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3)
MCM8 ?Premature ovarian failure 10, 612885 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PGR ?Progesterone resistance, 264080 (2)
PLCB2 Platelet PLC beta-2 deficiency (1)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
Myhre syndrome, 139210 (3)
Pancreatic cancer, somatic, 260350 (3)
Polyposis, juvenile intestinal, 174900 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TYK2 Immunodeficiency 35, 611521 (3)
UMPS Orotic aciduria, 258900 (3)
UROS Porphyria, congenital erythropoietic, 263700 (3)
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (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)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
XDH Xanthinuria, type I, 278300 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)
ZFHX2 ?Marsili syndrome, 147430 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ACVR1, ADA, ADCK3, AKR1C2, ALAD, ALDH4A1, ALG9, AQP2, ARHGDIA, ASPA, ATP6V1B1, BARD1, BRF1, CA2, CA8, CAD, CBS, CD207, CD36, CDCA7, CFTR, CHD4, CLDN16, COMT, CPOX, CRYBA4, CSF1R, CYP2B6, CYP2R1, DCHS1, DCXR, DLL4, DNAH11, DPP6, DSP, DYX1C1, ECHS1, EGFR, EIF2AK3, EMG1, EP300, ERCC1, FAM58A, FGFR2, FOXG1, GALNS, GBE1, H6PD, HBB, HERC2, HIBCH, IGSF1, IKBKB, IL12B, INPPL1, KCNA2, KCNN4, KIF2A, KISS1, KLHL3, KRAS, LRP6, MAB21L2, MCM8, MEFV, MMAB, MMP21, MTMR2, NDUFS6, NEB, OAT, PCSK9, PLEKHG2, PNPT1, POC1A, PRKDC, PRNP, PSAT1, PSPH, RECQL4, RTN4IP1, SERPINI1, SLC25A46, SLC37A4, SLC46A1, SMAD4, SNRNP200, SUFU, SZT2, TBP, TCF3, TLR3, TPMT, TRAP1, TYK2, UMPS, UROS, VWF, WNK1, XDH, ZAP70, 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
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AKR1C2 46,XY sex reversal 8
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARHGDIA Nephrotic syndrome, type 8
ASPA Aspartoacylase deficiency (Canavan disease)
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
BRF1 Cerebellofaciodental syndrome
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CAD Congenital disorder of glycosylation, type Iz
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CD207 Birbeck granule deficiency
CD36 Platelet glycoprotein IV deficiency
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3
CFTR Cystic fibrosis
CHD4 Schizophrenia
CLDN16 Hypomagnesemia 3, renal
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CRYBA4 Cataract 23
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CYP2B6 Efavirenz, poor metabolism of
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DCHS1 Mitral valve prolapse 2
DCXR Pentosuria
DLL4 Adams-Oliver syndrome 6
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
DYX1C1 Ciliary dyskinesia, primary 25
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
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
EMG1 Bowen-Conradi syndrome
EP300 Rubinstein-Taybi syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
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
FOXG1 Rett syndrome, congenital variant
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GBE1 Glycogen storage disease IV
H6PD Cortisone reductase deficiency
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
IGSF1 Central hypothyroidism and testicular enlargement
IKBKB Immunodeficiency 15
IL12B Immunodeficiency 28
Immunodeficiency 29
INPPL1 Opsismodysplasia
KCNA2 Epileptic encephalopathy, early infantile 32
KCNN4 Dehydrated hereditary stomatocytosis 2
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KLHL3 Pseudohypoaldosteronism, type IID
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LRP6 Coronary artery disease, autosomal dominant 2
MAB21L2 Microphthalmia, syndromic 14
MCM8 Premature ovarian failure 10
MEFV Familial Mediterranean fever
MMAB Methylmalonic acidemia, cblB type
MMP21 Heterotaxy, visceral, 7
MTMR2 Charcot-Marie-Tooth disease, type 4B1
NDUFS6 Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
OAT Gyrate atrophy of choroid and retina
PCSK9 Hypercholesterolemia, familial, 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPT1 Deafness, autosomal recessive 70
POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome)
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PSAT1 Phosphoserine aminotransferase deficiency
PSPH Phosphoserine phosphatase deficiency
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
SMAD4 Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Polyposis, juvenile intestinal
Myhre syndrome
SNRNP200 Retinitis pigmentosa 33
SUFU Medulloblastoma
Basal cell nevus syndrome
SZT2 Epileptic encephalopathy, early infantile, 18
TBP Spinocerebellar ataxia 17
TCF3 Agammaglobulinemia 8, autosomal dominant
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TPMT Thiopurine S-methyltransferase deficiency
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TYK2 Immunodeficiency 35
UMPS Orotic aciduria
UROS Porphyria, congenital erythropoietic
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
XDH Xanthinuria, type I
ZAP70 Selective T-cell defect
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 615
Number of Genes: 496

Export to: CSV

AC005609.1
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 15ac02303_s1 genome 5 . 140242452 87.17 C . PASS 0 30 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%
View 15ac02303_s1 genome 5 rs11321479
dbSNP Clinvar 		140242451 662.98 GC G PASS 0/1 50 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

ACACB
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 15ac02303_s1 genome 12 rs11065772
dbSNP Clinvar 		109617865 7271.57 T C PASS 1/1 276 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 12 rs3914
dbSNP Clinvar 		121174899 1764.73 T C PASS 0/1 161 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACLY
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 15ac02303_s1 genome 17 rs8065502
dbSNP Clinvar 		40048613 2265.84 A G PASS 1/1 85 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACMSD
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 15ac02303_s1 genome 2 . 135630168 9.8 A T LowGQ;LowGQX;SB 1/1 2 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.60 None None None None None None ACMSD|0.33638393|25.06%

ACOT7
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 15ac02303_s1 genome 1 . 6387449 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ACOT7|0.198258082|36.89%

ACTN4
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 15ac02303_s1 genome 19 rs3745859
dbSNP Clinvar 		39196745 662.68 C T PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ACVR1
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 15ac02303_s1 genome 2 rs1146031
dbSNP Clinvar 		158626980 5431.42 C T PASS 1/1 203 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADA
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 15ac02303_s1 genome 20 rs244076
dbSNP Clinvar 		43252915 1486.71 T C PASS 0/1 137 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%
View 15ac02303_s1 genome 20 rs394105
dbSNP Clinvar 		43264927 4388.57 C T PASS 1/1 140 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%
View 15ac02303_s1 genome 20 rs11555566
dbSNP Clinvar 		43255220 1707.47 T C PASS 0/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05272 0.05272 0.06505 0.38 0.03 None None None None None None ADA|0.574821556|12.82%

ADAMTS4
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 15ac02303_s1 genome 1 . 161168349 7.08 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ADAMTS4|0.218094914|34.6%,NDUFS2|0.321653173|26.03%

ADCK3
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 15ac02303_s1 genome 1 rs3738725
dbSNP Clinvar 		227174210 955.93 T C PASS 0/1 101 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

ADCY10
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 15ac02303_s1 genome 1 rs203849
dbSNP Clinvar 		167849414 859.74 A G PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 4 rs283413
dbSNP Clinvar 		100268190 1213.4 A C PASS 1/1 47 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ADRBK1
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 15ac02303_s1 genome 11 rs2228418
dbSNP Clinvar 		67034266 319.73 C A LowGQ;LowGQX 1/1 16 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AEN
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 15ac02303_s1 genome 15 rs199833901
dbSNP Clinvar 		89169482 9.29 C A LowGQX 0/1 3 STOP_GAINED HIGH None 0.00020 0.00020 None None None None None None AEN|0.108873578|49.4%

AIMP2
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 15ac02303_s1 genome 7 . 6049063 3.16 C A LowGQX;LowQD;SB 0/1 3 STOP_GAINED HIGH None None None None None None None AIMP2|0.162483135|41.23%

AK7
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 15ac02303_s1 genome 14 . 96924450 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None AK7|0.025423977|71.6%

AKAP3
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 15ac02303_s1 genome 12 . 4737785 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None AKAP3|0.022604217|72.88%

AKR1C1
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 15ac02303_s1 genome 10 rs1138600
dbSNP Clinvar 		5010572 1964.77 A G PASS 1/1 163 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

AKR1C2
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 15ac02303_s1 genome 10 rs3207909
dbSNP Clinvar 		5041398 901.47 T C PASS 0/1 153 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AKR1C2|0.002182475|90.47%

ALAD
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 15ac02303_s1 genome 9 rs1139488
dbSNP Clinvar 		116153900 2593.06 A G PASS 1/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ALDH4A1
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 15ac02303_s1 genome 1 rs7550938
dbSNP Clinvar 		19202917 2366.26 T C PASS 0/1 195 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View 15ac02303_s1 genome 1 rs2230708
dbSNP Clinvar 		19201956 1923.56 A G PASS 0/1 160 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View 15ac02303_s1 genome 1 rs2230705
dbSNP Clinvar 		19203997 7509.66 C G PASS 1/1 258 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%

ALG9
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 15ac02303_s1 genome 11 rs10708475
dbSNP Clinvar 		111742145 3620.21 CG C PASS 1/1 81 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%
View 15ac02303_s1 genome 11 . 111742146 0.0 G . LowGQX . 0 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALPI
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 15ac02303_s1 genome 2 . 233320912 3.16 G A LowGQX;LowQD;SB 0/1 3 START_LOST HIGH None 0.00 0.96 None None None None None None ALPI|0.023153423|72.6%

AMIGO1
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 15ac02303_s1 genome 1 . 110050053 9.8 T C LowGQ;LowGQX;SB 1/1 1 STOP_LOST HIGH None None None None None None None AMIGO1|0.280280899|29.08%

ANKRD36C
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 15ac02303_s1 genome 2 rs76474100
dbSNP Clinvar 		96617111 9.8 G A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None 0.00040 0.00040 None None None None None None ANKRD36C|0.001406745|93.3%

AOAH
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 15ac02303_s1 genome 7 rs57543920
dbSNP Clinvar 		36552790 11090.34 G GT PASS 1/1 304 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View 15ac02303_s1 genome 7 rs59476355
dbSNP Clinvar 		36552729 13368.05 A AT PASS 1/1 348 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

AOX1
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 15ac02303_s1 genome 2 . 201485859 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None AOX1|0.048138399|63.27%

AQP2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 12 rs426496
dbSNP Clinvar 		50348078 2031.74 T C PASS 1/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARHGAP21
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 15ac02303_s1 genome 10 . 24908422 9.8 A T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ARHGAP21|0.073197055|56.74%

ARHGAP25
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 15ac02303_s1 genome 2 . 69015085 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ARHGAP25|0.122812849|46.99%

ARHGAP27
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 15ac02303_s1 genome 17 . 43481819 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ARHGAP27|0.041158202|65.39%

ARHGDIA
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 15ac02303_s1 genome 17 . 79827227 14.92 G T LowGQ;LowGQX 1/1 2 STOP_GAINED HIGH None None None None None None None ARHGDIA|0.263334467|30.45%

ARHGEF18
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 15ac02303_s1 genome 19 . 7511938 7.08 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ARHGEF18|0.021386843|73.49%

ARMC6
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 15ac02303_s1 genome 19 . 19162449 3.07 G T LowGQX;LowQD;SB 0/1 2 STOP_GAINED HIGH None None None None None None None ARMC6|0.011162271|79.89%

ARMS2
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 15ac02303_s1 genome 10 rs2736911
dbSNP Clinvar 		124214355 1823.81 C T PASS 0/1 162 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

ASB10
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 15ac02303_s1 genome 7 rs34383739,rs552723672
dbSNP Clinvar 		150884266 1366.11 C CAG PASS 0/1 147 FRAME_SHIFT HIGH None 0.19569 0.19570 None None None None None None ASB10|0.051312988|62.24%

ASPA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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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 15ac02303_s1 genome 17 rs12948217
dbSNP Clinvar 		3397702 1269.56 C T PASS 0/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20367 0.20370 0.28925 3.49 0.00 0.03575 T None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

ATAD3A
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 1 . 1469414 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ATAD3A|0.041035671|65.43%

ATP6V1B1
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 15ac02303_s1 genome 2 rs11681642
dbSNP Clinvar 		71163086 402.23 T C PASS 0/1 39 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

BARD1
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 15ac02303_s1 genome 2 rs2070093
dbSNP Clinvar 		215632256 1757.21 A G PASS 1/1 55 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%
View 15ac02303_s1 genome 2 rs2070094
dbSNP Clinvar 		215632255 623.46 C T PASS 0/1 55 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36621 0.36620 0.28064 0.12 0.01 None None None None None None BARD1|0.230178617|33.35%

BCAN
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 15ac02303_s1 genome 1 . 156621433 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None BCAN|0.109571334|49.27%

BCAR3
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 15ac02303_s1 genome 1 . 94047860 7.08 T C LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.14 0.03 None None None None None None BCAR3|0.150957792|42.84%

BICD1
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 15ac02303_s1 genome 12 . 32481215 7.24 C A LowGQX;LowQD;SB 0/1 18 STOP_GAINED HIGH None None None None None None None BICD1|0.069048609|57.71%

BLVRB
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 15ac02303_s1 genome 19 . 40953835 7.08 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None BLVRB|0.146006015|43.58%

BRF1
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 15ac02303_s1 genome 14 rs1020302194
dbSNP Clinvar 		105688015 9.8 C A LowGQ;LowGQX;SB 1/1 2 STOP_GAINED HIGH None None None None None None None BRF1|0.023675116|72.34%

BRPF3
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 15ac02303_s1 genome 6 . 36198321 7.08 C A LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None BRPF3|0.316454475|26.34%

C10orf107
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 15ac02303_s1 genome 10 . 63520648 7.08 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None C10orf107|0.277213376|29.34%

C10orf12
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 15ac02303_s1 genome 10 . 98742198 4.97 G T LowGQX;SB 0/1 2 STOP_GAINED HIGH None None None None None None None C10orf12|0.046517543|63.74%

C12orf5
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 15ac02303_s1 genome 12 . 4459055 9.8 G T LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.99 None None None None None None TIGAR|0.017408746|75.62%

C14orf64
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 15ac02303_s1 genome 14 . 98435641 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None LINC01550|0.000788168|96.74%

C19orf47
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 15ac02303_s1 genome 19 . 40842124 14.92 T A LowGQ;LowGQX 1/1 2 STOP_GAINED HIGH None None None None None None None C19orf47|0.105883404|50.02%

C1orf173
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 15ac02303_s1 genome 1 rs748283860
dbSNP Clinvar 		75038216 7.08 G A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ERICH3|0.0119525|79.27%

C1QTNF3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 5 . 34020827 9.8 G T LowGQ;LowGQX;SB 1/1 2 STOP_GAINED HIGH None None None None None None None C1QTNF3|0.306499417|27.13%

C3AR1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 12 . 8212549 4.97 G T LowGQX;SB 0/1 2 STOP_GAINED HIGH None None None None None None None C3AR1|0.039131898|66.05%

CA2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 8 rs703
dbSNP Clinvar 		86389403 6048.47 T C PASS 1/1 233 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA3
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 15ac02303_s1 genome 8 rs759873251
dbSNP Clinvar 		86351992 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CA3|0.309141355|26.9%
View 15ac02303_s1 genome 8 . 86354346 9.8 T A LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07 0.76 None None None None None None CA3|0.309141355|26.9%

CA8
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 15ac02303_s1 genome 8 rs7464181
dbSNP Clinvar 		61178574 2240.39 T C PASS 0/1 135 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CAD
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 15ac02303_s1 genome 2 . 27461469 9.8 G T LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20 0.02 None None None None None None CAD|0.237806166|32.61%
View 15ac02303_s1 genome 2 rs144692793
dbSNP Clinvar 		27461368 58.29 T C LowGQ;LowGQX 1/1 4 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00220 0.00220 0.00561 0.01 0.79 None None None None None None CAD|0.237806166|32.61%

CAPG
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 15ac02303_s1 genome 2 . 85629060 9.8 G T LowGQ;LowGQX;SB 1/1 2 STOP_GAINED HIGH None None None None None None None CAPG|0.167090325|40.65%

CARM1
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 15ac02303_s1 genome 19 rs769775409
dbSNP Clinvar 		11031197 7.08 G A LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11 0.00 None None None None None None CARM1|0.523794567|14.83%

CASP12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 11 rs497116
dbSNP Clinvar 		104763117 6189.5 G A PASS 1/1 215 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CASP9
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 15ac02303_s1 genome 1 rs2234723,rs397776921
dbSNP Clinvar 		15820307 495.88 A AC PASS 0/1 42 FRAME_SHIFT HIGH None 0.23582 0.23580 None None None None None None CASP9|0.380237916|22.03%

CBLB
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 15ac02303_s1 genome 3 rs2305035
dbSNP Clinvar 		105439026 1634.53 G A PASS 0/1 137 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21006 0.21010 0.20429 None None None None None None CBLB|0.559095691|13.39%

CBLC
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 15ac02303_s1 genome 19 . 45296760 14.92 C A LowGQ;LowGQX 1/1 2 STOP_GAINED HIGH None None None None None None None CBLC|0.013025903|78.49%
View 15ac02303_s1 genome 19 . 45295640 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None CBLC|0.013025903|78.49%

CBLL1
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 15ac02303_s1 genome 7 . 107398898 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CBLL1|0.424458565|19.37%

CBLN1
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 15ac02303_s1 genome 16 . 49315151 7.08 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CBLN1|0.300515652|27.63%

CBR3
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 15ac02303_s1 genome 21 rs881712
dbSNP Clinvar 		37507769 783.42 C T PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View 15ac02303_s1 genome 21 rs881711
dbSNP Clinvar 		37507745 1460.68 C T PASS 0/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CBS
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 15ac02303_s1 genome 21 rs234706
dbSNP Clinvar 		44485350 2173.82 G A PASS 0/1 217 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%

CCDC101
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 16 rs11401
dbSNP Clinvar 		28602991 69.89 A G SB 0/1 8 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17412 0.17410 0.17262 None None None None None None CCDC101|0.21642996|34.83%
View 15ac02303_s1 genome 16 rs3194168
dbSNP Clinvar 		28603012 66.71 A G SB 0/1 9 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07748 0.07748 0.11628 None None None None None None CCDC101|0.21642996|34.83%

CCDC108
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 15ac02303_s1 genome 2 . 219895880 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CCDC108|0.017724873|75.46%

CCDC64
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 15ac02303_s1 genome 12 . 120509507 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CCDC64|0.369366162|22.75%

CCER1
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 15ac02303_s1 genome 12 . 91348345 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CCER1|0.006021162|84.57%

CD207
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 15ac02303_s1 genome 2 rs11450450,rs397692276
dbSNP Clinvar 		71062833 5104.91 G GC PASS 1/1 122 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CD248
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 15ac02303_s1 genome 11 . 66083400 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CD248|0.030143056|69.34%

CD36
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 15ac02303_s1 genome 7 rs201657731
dbSNP Clinvar 		80302104 1452.72 C T PASS 0/1 91 STOP_GAINED HIGH None 0.00008 None None None None None None CD36|0.503379471|15.69%

CDC25B
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 15ac02303_s1 genome 20 . 3784129 4.97 A T LowGQX;LowQD;SB 0/1 3 STOP_GAINED HIGH None None None None None None None CDC25B|0.242518934|32.24%

CDC27
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 15ac02303_s1 genome 17 rs199899451
dbSNP Clinvar 		45234721 172.86 T A LowGQ;LowGQX 1/1 8 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%
View 15ac02303_s1 genome 17 rs62077264
dbSNP Clinvar 		45234360 205.72 A C LowGQ;LowGQX 1/1 15 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%

CDCA7
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 15ac02303_s1 genome 2 . 174229527 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CDCA7|0.272098517|29.73%

CDK1
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 15ac02303_s1 genome 10 . 62547879 7.08 G T LowGQ;LowGQX;SB 1/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None CDK1|0.72169208|7.93%

CFTR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 15ac02303_s1 genome 7 rs79074685
dbSNP Clinvar 		117188850 180.83 G T LowQD;SB 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 None None None None None None CFTR|0.947527653|2.33%

CHD4
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 15ac02303_s1 genome 12 . 6697566 3.16 G T LowGQX;LowQD;SB 0/1 4 STOP_GAINED HIGH None 3.28 0.01 0.20974 T None None None None CHD4|0.655772163|9.88%

CHD5
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 15ac02303_s1 genome 1 . 6191784 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CHD5|0.117473003|47.85%

CHI3L1
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 15ac02303_s1 genome 1 rs4950927
dbSNP Clinvar 		203148633 4822.89 A G PASS 1/1 175 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%
View 15ac02303_s1 genome 1 rs880633
dbSNP Clinvar 		203152801 2347.41 T C PASS 1/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.46 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2
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 15ac02303_s1 genome 1 rs13721
dbSNP Clinvar 		111783982 1230.64 C A PASS 1/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10883 0.19030 0.23297 None None None None None None CHI3L2|0.012602272|78.81%