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+ Genes 321

Genes:
ACACB, ACADS, ACLY, ACSM2A, ACTN4, ACTR8, ACVR1, ADA, ADAM8, ADAMTS13, ADAMTS8, ADCK3, ADCY10, ADRBK1, AGO1, AGO2, AK2, AK4, AKR1B10, AKR1C2, AKR1E2, ALAD, ALDH4A1, ALKBH3, ALOX15B, AMPD1, ANAPC1, ANGPT2, ANPEP, APC, AQP2, ARHGEF5, ARSB, ASPA, ASS1, BACH2, BARD1, BLVRB, C19orf40, C1orf194, CA2, CA8, CACNA1D, CAD, CAMK2B, CAPN2, CAPN9, CARM1, CAT, CBR3, CBS, CCDC101, CCHCR1, CD180, CDC27, CDH15, CDRT15, CGNL1, CHI3L1, CHI3L2, CHIA, CKB, CLC, CLIP1, CNGA1, CNOT1, COMT, CPN2, CPOX, CRYBA4, CRYL1, CRYM, CSF1R, CYP11B2, CYP21A2, CYP2A13, CYP2C9, CYP2D6, CYP2R1, CYTH3, DCXR, DDR1, DHRS4, DLC1, DLG1, DOC2A, DOCK8, DPP4, DPYSL2, DSCAM, DSP, EBF1, ECHDC2, ECHDC3, EGFR, EIF2AK3, EIF4A3, ELANE, ENPP4, EP300, EPHA2, EPHB3, EPHB4, EPHX2, ERAP1, ERAP2, ERCC1, EXO1, EYA4, F11R, FAM211B, FAM96A, FAN1, FANK1, FASN, FCGR2A, FCRL6, FDFT1, FGFR2, FLG2, FLT4, FOLH1, FUT2, GAPDH, GEMIN2, GGT1, GRK6, GSTA1, GUSB, HAAO, HBB, HCN2, HERC2, HEXA, HIBCH, HLA-A, HMGCS1, HMGN5, HNRNPR, HPN, HSD17B14, HSPA2, IL34, INMT, INPP5E, INPP5K, ISG15, JMJD1C, KDM6B, KMT2C, KRAS, LCN15, LGALS8, LGR5, LMAN1, LRP6, LSS, MAGEA4, MAGEB16, MAP2K3, MAP3K8, MAPK11, MAPK12, MAPKAPK2, MAT1A, MB21D1, MEFV, METAP2, METTL21C, MINA, MMP10, MOB3C, MTAP, MTERFD2, MUS81, MVK, MYO5B, NACA2, NCOR1, NEK2, NET1, NKTR, NLRP8, NLRX1, NME3, NRIP2, NRP1, NT5C2, NT5E, NTRK1, NUDT2, NXF1, OR10J1, OR1B1, OR1J1, OR1S1, OR2L8, OR2M3, OR2T5, OR4C15, OR4C16, OR4C3, OR4X1, OR52E8, OR5AC2, OR5AR1, OR5K2, OR8K1, PADI2, PAH, PARP1, PCK1, PCMTD1, PCSK9, PDCD6, PDE1B, PDE4B, PDE4DIP, PELI2, PFKP, PIR, PKD1L2, PKN2, PLCB3, PLK2, PLSCR1, PLXNC1, PNLIPRP1, PNMT, POLN, PPARG, PPIL1, PPP5C, PRAMEF1, PRKAA2, PRKCQ, PRMT6, PRNP, PSAT1, PTCHD3, PTPN6, RAB21, RAB8A, RAC2, RBBP4, RGS9, RHOU, RHPN2, RIPK1, RMI2, RNF8, ROR2, RPA1, RRM1, SCN1A, SEC14L3, SEC23A, SEMA4D, SERPINB3, SERPINB5, SETD6, SHARPIN, SHKBP1, SHROOM3, SIGLEC12, SIK3, SIRT3, SIRT5, SKA3, SLC17A5, SLC22A10, SLC6A18, SLC9B1, SND1, SORL1, SPEN, SPSB4, SRPX2, STK10, STK17B, SULT1A2, SULT2A1, SUPT5H, SUSD2, SYK, TARS, TBP, TG, THEM5, THEM6, TLR10, TLR3, TLR6, TMC2, TNFRSF6B, TNFSF10, TNFSF15, TNFSF9, TOP3A, TP73, TPH2, TRAF5, TRDMT1, TTC4, UBC, UBE2NL, UBE2O, USP2, USP29, VWF, WAPAL, WARS, XDH, XYLB, YWHAG, ZACN, ZADH2, ZDHHC12, ZNF117, ZNF772, ZNF80,

+ Genes associated with diseases 108

Genes at Omim

ACADS, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, ADCY10, AK2, AKR1C2, ALAD, ALDH4A1, AMPD1, APC, AQP2, ARSB, ASPA, ASS1, BARD1, CA2, CA8, CACNA1D, CAD, CAMK2B, CAT, CBS, CDH15, CHI3L1, CNGA1, COMT, CPOX, CRYBA4, CRYM, CSF1R, CYP11B2, CYP21A2, CYP2C9, CYP2D6, CYP2R1, DCXR, DLC1, DOCK8, DSP, EGFR, EIF2AK3, ELANE, EP300, EPHA2, EPHB4, EPHX2, ERCC1, EYA4, FAN1, FCGR2A, FDFT1, FGFR2, FLG2, FLT4, FUT2, GGT1, GUSB, HAAO, HBB, HERC2, HEXA, HIBCH, HLA-A, INPP5E, INPP5K, ISG15, KMT2C, KRAS, LMAN1, LRP6, LSS, MAP3K8, MAT1A, MEFV, MTAP, MVK, MYO5B, NEK2, NT5C2, NT5E, NTRK1, PAH, PCK1, PCSK9, PPARG, PRNP, PSAT1, RAC2, RGS9, RIPK1, ROR2, SCN1A, SEC23A, SIK3, SLC17A5, SRPX2, TBP, TG, TLR3, TOP3A, TPH2, VWF, WARS, XDH, YWHAG,
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)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AK2 Reticular dysgenesis, 267500 (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)
AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 (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)
ASPA Canavan disease, 271900 (3)
ASS1 Citrullinemia, 215700 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (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)
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CAT Acatalasemia, 614097 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CDH15 Mental retardation, autosomal dominant 3, 612580 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CNGA1 Retinitis pigmentosa 49, 613756 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYM Deafness, autosomal dominant 40, 616357 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (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)
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)
DCXR [Pentosuria], 260800 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (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)
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)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
EYA4 Deafness, autosomal dominant 10, 601316 (3)
?Cardiomyopathy, dilated, 1J, 605362 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (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)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GUSB Mucopolysaccharidosis VII, 253220 (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)
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)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INPP5K Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
ISG15 Immunodeficiency 38, 616126 (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)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (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)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NT5C2 Spastic paraplegia 45, autosomal recessive, 613162 (3)
NT5E Calcification of joints and arteries, 211800 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (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)
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)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
RGS9 Bradyopsia, 608415 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
SCN1A Febrile seizures, familial, 3A, 604403 (3)
Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)
Migraine, familial hemiplegic, 3, 609634 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SIK3 ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC17A5 Salla disease, 604369 (3)
Sialic acid storage disorder, infantile, 269920 (3)
SRPX2 ?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (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)
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)
XDH Xanthinuria, type I, 278300 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, AK2, AKR1C2, ALAD, ALDH4A1, AMPD1, APC, AQP2, ARSB, ASPA, ASS1, BARD1, CA2, CA8, CACNA1D, CAD, CAT, CBS, CDH15, CNGA1, COMT, CPOX, CRYBA4, CRYM, CSF1R, CYP11B2, CYP21A2, CYP2C9, CYP2D6, CYP2R1, DCXR, DOCK8, DSP, EGFR, EIF2AK3, EIF4A3, ELANE, EP300, EPHA2, ERCC1, EYA4, FAN1, FGFR2, FLT4, GUSB, HBB, HERC2, HEXA, HIBCH, HLA-A, INPP5E, ISG15, KRAS, LMAN1, LRP6, LSS, MAT1A, MEFV, MTAP, MVK, MYO5B, NEK2, NT5C2, NT5E, NTRK1, PAH, PCSK9, PPARG, PRNP, PSAT1, RAC2, RGS9, ROR2, SCN1A, SEC23A, SLC17A5, SRPX2, TBP, TG, TLR3, VWF, XDH,
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
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AK2 Reticular dysgenesis
AKR1C2 46,XY sex reversal 8
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
AMPD1 Myoadenylate deaminase deficiency
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASPA Aspartoacylase deficiency (Canavan disease)
ASS1 Citrullinemia
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CAD Congenital disorder of glycosylation, type Iz
CAT Acatalasemia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CDH15 Mental retardation, autosomal dominant 3
CNGA1 Retinitis pigmentosa 49
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CRYBA4 Cataract 23
CRYM Deafness, autosomal dominant 40
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
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
CYP2C9 Drug metabolism, CYP2C9-related
CYP2D6 Drug metabolism, CYP2CD6-related
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DCXR Pentosuria
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
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
EIF4A3 Richieri-Costa-Pereira Syndrome
ELANE Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, cyclic
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERCC1 Cerebrooculofacioskeletal syndrome 4
EYA4 Cardiomyopathy, dilated, 1J
FAN1 Interstitial nephritis, karyomegalic
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
FLT4 Lymphedema, hereditary I (Milory disease)
GUSB Mucopolysaccharidosis type VII
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
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HLA-A Drug-induced toxicity, susceptibility to
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ISG15 Immunodeficiency 38, with basal ganglia calcification
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LMAN1 Combined factor V and VIII deficiency
LRP6 Coronary artery disease, autosomal dominant 2
LSS Cataract 44
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYO5B Diarrhea 2, with microvillus atrophy
NEK2 Retinitis pigmentosa 67
NT5C2 Spastic paraplegia 45
NT5E Calcification of joints and arteries
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PCSK9 Hypercholesterolemia, familial, 3
PPARG Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
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
RAC2 Neutrophil immunodeficiency syndrome
RGS9 Bradyopsia
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SCN1A Migraine, familial hemiplegic 3
SEC23A Craniolenticulosutural dysplasia
SLC17A5 Infantile sialic acid storage disorder
Sialuria, Finnish type (Salla disease)
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia
TBP Spinocerebellar ataxia 17
TG Thyroid dyshormonogenesis 3
TLR3 Herpes simplex encephalitis, susceptibility to, 2
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
XDH Xanthinuria, type I

Genes at HGMD

Summary

Number of Variants: 386
Number of Genes: 321

Export to: CSV

ACACB
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 na12878 compound_heterozygous 12 rs11065772
dbSNP Clinvar 		109617865 4673.26 T C PASS 1/1 122 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 12 rs3914
dbSNP Clinvar 		121174899 865.26 T C PASS 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 17 rs8065502
dbSNP Clinvar 		40048613 13134.4 A G PASS 1/1 317 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 16 rs1700805
dbSNP Clinvar 		20488696 195.55 A G PASS 0/1 14 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

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 na12878 compound_heterozygous 19 rs3745859
dbSNP Clinvar 		39196745 3779.32 C T PASS 1/1 88 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 na12878 compound_heterozygous 3 rs4687757
dbSNP Clinvar 		53906513 2679.44 G A PASS 0/1 158 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 2 rs1146031
dbSNP Clinvar 		158626980 13395.6 C T PASS 1/1 311 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 20 rs394105
dbSNP Clinvar 		43264927 2671.74 C T PASS 1/1 63 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 na12878 compound_heterozygous 10 rs1131720
dbSNP Clinvar 		135085321 4860.52 C T PASS 1/1 118 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 na12878 compound_heterozygous 9 rs3124768
dbSNP Clinvar 		136304497 16424.4 A G PASS 1/1 437 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTS8
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 na12878 compound_heterozygous 11 rs199760382
dbSNP Clinvar 		130276014 394.97 G T FDRtranche1.00to10.00+ 0/1 78 STOP_GAINED HIGH NONSENSE None None None None None None ADAMTS8|0.042125202|65.07%

ADCK3
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 na12878 compound_heterozygous 1 rs12593
dbSNP Clinvar 		227172290 6328.15 C T PASS 0/1 322 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%
View na12878 compound_heterozygous 1 rs3738725
dbSNP Clinvar 		227174210 2921.47 T C PASS 0/1 198 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 1 rs203849
dbSNP Clinvar 		167849414 1780.11 A G PASS 0/1 192 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

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 na12878 compound_heterozygous 11 rs2228418
dbSNP Clinvar 		67034266 407.14 C A PASS 1/1 12 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGO1
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 na12878 compound_heterozygous 1 rs72661618
dbSNP Clinvar 		36380971 2074.31 A C FDRtranche1.00to10.00+ 0/1 449 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.03 0.99 None None None None None None AGO1|0.921712667|2.94%

AGO2
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 na12878 compound_heterozygous 8 rs2292781
dbSNP Clinvar 		141559358 3001.27 G A PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

AK2
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 na12878 compound_heterozygous 1 rs76061645
dbSNP Clinvar 		33502376 96.93 G A PASS 0/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None AK2|0.52008847|15.01%

AK4
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 na12878 compound_heterozygous 1 rs199711184
dbSNP Clinvar 		65684548 2772.44 G C PASS 0/1 147 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00020 0.00020 0.00 0.99 None None None None None None AK4|0.08011651|55.14%

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 na12878 compound_heterozygous 7 rs28545160
dbSNP Clinvar 		134221826 318.08 A G PASS 1/1 9 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None AKR1B10|0.014962544|77.15%

AKR1C2
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 na12878 compound_heterozygous 10 rs3207909
dbSNP Clinvar 		5041398 10.97 T C ESPStandard;HARD_TO_VALIDATE;LowQual 0/1 1 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None AKR1C2|0.002182475|90.47%

AKR1E2
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 na12878 compound_heterozygous 10 rs12240276
dbSNP Clinvar 		4889403 9782.64 C T PASS 0/1 465 STOP_GAINED HIGH NONSENSE 0.07847 0.07847 0.10964 None None None None None None AKR1E2|0.003819928|87.28%

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 na12878 compound_heterozygous 9 rs1139488
dbSNP Clinvar 		116153900 2310.92 A G PASS 0/1 172 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 1 rs2230708
dbSNP Clinvar 		19201956 2570.31 A G PASS 1/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View na12878 compound_heterozygous 1 rs7550938
dbSNP Clinvar 		19202917 405.48 T C PASS 1/1 13 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View na12878 compound_heterozygous 1 rs2230705
dbSNP Clinvar 		19203997 2039.43 C G PASS 0/1 84 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%

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 na12878 compound_heterozygous 11 rs1048928
dbSNP Clinvar 		43940644 15648.0 G T PASS 0/1 972 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 17 rs11541083
dbSNP Clinvar 		7950377 2065.37 C T PASS 0/1 133 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View na12878 compound_heterozygous 17 rs9898751
dbSNP Clinvar 		7950952 827.49 C A PASS 0/1 65 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View na12878 compound_heterozygous 17 rs6503070
dbSNP Clinvar 		7948175 1389.22 C T PASS 0/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%

AMPD1
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 na12878 compound_heterozygous 1 rs17602729
dbSNP Clinvar 		115236057 2673.25 G A PASS 0/1 199 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.03814 0.03814 0.09459 None None None None None None AMPD1|0.217023192|34.75%

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 na12878 compound_heterozygous 2 rs72936240
dbSNP Clinvar 		112614429 1747.84 G A PASS 0/1 232 STOP_GAINED HIGH NONSENSE None None None None None None ANAPC1|0.14646446|43.53%

ANGPT2
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 na12878 compound_heterozygous 8 rs17063434
dbSNP Clinvar 		6371303 4601.64 A G PASS 0/1 243 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04433 0.04433 0.06412 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANPEP
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 na12878 compound_heterozygous 15 rs41276922
dbSNP Clinvar 		90349461 1632.17 G A PASS 0/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04253 0.04253 0.06724 None None None None None None ANPEP|0.009750059|81.03%
View na12878 compound_heterozygous 15 rs25653
dbSNP Clinvar 		90349558 4501.33 C T PASS 0/1 190 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57907 0.57910 0.36598 0.53 0.00 None None None None None None ANPEP|0.009750059|81.03%

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 na12878 compound_heterozygous 5 rs41115
dbSNP Clinvar 		112175770 5297.62 G A PASS 0/1 259 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View na12878 compound_heterozygous 5 rs2229992
dbSNP Clinvar 		112162854 4597.24 T C PASS 0/1 245 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 na12878 compound_heterozygous 12 rs426496
dbSNP Clinvar 		50348078 648.93 T C PASS 0/1 45 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 na12878 compound_heterozygous 7 rs201796473
dbSNP Clinvar 		144059763 10.27 A G ESPStandard;HARD_TO_VALIDATE;LowQual 0/1 91 START_LOST HIGH MISSENSE 0.00 0.01 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 na12878 compound_heterozygous 5 rs1071598
dbSNP Clinvar 		78181423 7253.75 C T PASS 0/1 372 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%

ASPA
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 na12878 compound_heterozygous 17 rs12948217
dbSNP Clinvar 		3397702 2038.16 C T PASS 0/1 138 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.20367 0.20370 0.28925 None None None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

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 na12878 compound_heterozygous 9 rs10901072
dbSNP Clinvar 		133346226 2254.93 C T PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10723 0.10720 0.12402 None None None None None None ASS1|0.463790404|17.47%

BACH2
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 na12878 compound_heterozygous 6 rs2236181
dbSNP Clinvar 		90661576 2602.32 T C PASS 0/1 149 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%

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 na12878 compound_heterozygous 2 rs2070094
dbSNP Clinvar 		215632255 6590.59 C T PASS 0/1 361 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 na12878 compound_heterozygous 2 rs2070093
dbSNP Clinvar 		215632256 14333.2 A G PASS 1/1 358 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

BLVRB
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 na12878 compound_heterozygous 19 rs1061197
dbSNP Clinvar 		40964312 218.2 G A PASS 0/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10723 0.10720 0.11854 None None None None None None BLVRB|0.146006015|43.58%

C19orf40
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 na12878 compound_heterozygous 19 rs2304103
dbSNP Clinvar 		33467413 2113.27 C T PASS 0/1 116 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.07029 0.07029 0.05021 0.73 0.01 None None None None None None C19orf40|0.047805729|63.39%

C1orf194
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 na12878 compound_heterozygous 1 rs746312386
dbSNP Clinvar 		109650648 28.84 A T ESPStandard;HARD_TO_VALIDATE;LowQual 0/1 6 STOP_GAINED HIGH NONSENSE None None None None None None C1orf194|0.02567423|71.47%

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 na12878 compound_heterozygous 8 rs703
dbSNP Clinvar 		86389403 8172.7 T C PASS 0/1 434 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

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 na12878 compound_heterozygous 8 rs7464181
dbSNP Clinvar 		61178574 2880.48 T C PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CACNA1D
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 na12878 compound_heterozygous 3 rs201865160
dbSNP Clinvar 		53839025 340.56 C A FDRtranche1.00to10.00+ 0/1 228 STOP_GAINED HIGH NONSENSE None None None None None None CACNA1D|0.678487804|9.14%

CAD
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 na12878 compound_heterozygous 2 rs1141313
dbSNP Clinvar 		27460968 4398.84 A G PASS 0/1 240 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.45467 0.45470 0.44987 None None None None None None CAD|0.237806166|32.61%

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 na12878 compound_heterozygous 7 rs11542227
dbSNP Clinvar 		44282877 2909.23 A G PASS 0/1 186 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%
View na12878 compound_heterozygous 7 rs11542228
dbSNP Clinvar 		44282868 2364.32 A G PASS 0/1 164 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%

CAPN2
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 na12878 compound_heterozygous 1 rs28370127
dbSNP Clinvar 		223949314 10413.7 G C PASS 0/1 442 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00579 0.00579 0.00800 0.61 0.10 None None None None None None CAPN2|0.174674652|39.7%

CAPN9
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 na12878 compound_heterozygous 1 rs3828126
dbSNP Clinvar 		230903350 3110.08 T C PASS 0/1 233 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.22464 0.22460 0.28256 None None None None None None CAPN9|0.040556214|65.59%
View na12878 compound_heterozygous 1 rs2282319
dbSNP Clinvar 		230898494 2759.72 C T PASS 0/1 218 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.33287 0.33290 0.33731 None None None None None None CAPN9|0.040556214|65.59%

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 na12878 compound_heterozygous 19 rs201539135
dbSNP Clinvar 		11019790 138.27 C A FDRtranche1.00to10.00+ 0/1 67 STOP_GAINED HIGH NONSENSE None None None None None None CARM1|0.523794567|14.83%

CAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 11 rs769217
dbSNP Clinvar 		34482908 4709.52 C T PASS 0/1 267 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26278 0.26280 0.21123 None None None None None None CAT|0.949304275|2.27%

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 na12878 compound_heterozygous 21 rs881712
dbSNP Clinvar 		37507769 668.14 C T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View na12878 compound_heterozygous 21 rs881711
dbSNP Clinvar 		37507745 1123.61 C T PASS 0/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 na12878 compound_heterozygous 21 rs234706
dbSNP Clinvar 		44485350 664.89 G A PASS 0/1 58 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 16 rs11401
dbSNP Clinvar 		28602991 2164.88 A G PASS 0/1 156 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.17412 0.17410 0.17262 None None None None None None CCDC101|0.21642996|34.83%
View na12878 compound_heterozygous 16 rs3194168
dbSNP Clinvar 		28603012 1931.46 A G PASS 0/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.07748 0.07748 0.11628 None None None None None None CCDC101|0.21642996|34.83%

CCHCR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 6 rs3130453
dbSNP Clinvar 		31124849 1841.36 C T PASS 0/1 107 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
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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 na12878 compound_heterozygous 5 rs1697144
dbSNP Clinvar 		66480004 7418.81 T C PASS 1/1 179 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%

CDC27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 17 rs62077264
dbSNP Clinvar 		45234360 147561.0 A C FDRtranche1.00to10.00+ 1/1 3708 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View na12878 compound_heterozygous 17 rs73319503
dbSNP Clinvar 		45247362 351.69 G A PASS 0/1 81 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View na12878 compound_heterozygous 17 rs75204938
dbSNP Clinvar 		45234486 1948.3 A C ESPStandard;SnpCluster 0/1 99 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%
View na12878 compound_heterozygous 17 rs77685276
dbSNP Clinvar 		45214558 8316.76 G A FDRtranche1.00to10.00+ 0/1 429 STOP_GAINED HIGH NONSENSE None None None None None None CDC27|0.658499283|9.78%

CDH15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 16 rs2270416
dbSNP Clinvar 		89261482 155.22 C A PASS 0/1 17 STOP_GAINED HIGH NONSENSE 0.07508 0.07508 0.03649 None None None None None None CDH15|0.019027782|74.65%

CDRT15
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 na12878 compound_heterozygous 17 rs11651890
dbSNP Clinvar 		14140081 541.46 G A FDRtranche1.00to10.00+ 0/1 119 STOP_GAINED HIGH NONSENSE None None None None None None CDRT15|0.000811376|96.58%

CGNL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 15 . 57838434 11.51 T A ESPStandard;LowQual 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None CGNL1|0.036122677|67.07%

CHI3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 1 rs4950927
dbSNP Clinvar 		203148633 1442.69 A G PASS 1/1 37 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%
View na12878 compound_heterozygous 1 rs880633
dbSNP Clinvar 		203152801 7324.16 T C PASS 1/1 177 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.37300 0.37300 0.41442 0.00 0.31 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2
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 na12878 compound_heterozygous 1 rs13721
dbSNP Clinvar 		111783982 15341.6 C T PASS 1/1 369 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10883 0.19030 1.00 1.00 None None None None None None CHI3L2|0.012602272|78.81%
View na12878 compound_heterozygous 1 rs2494007
dbSNP Clinvar 		111783996 13206.6 A G PASS 1/1 317 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 1 rs2275253
dbSNP Clinvar 		111861841 16756.6 A G PASS 1/1 428 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CKB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 14 rs1803283
dbSNP Clinvar 		103986255 819.23 C T PASS 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.63898 0.63900 0.41609 None None None None None None CKB|0.155239483|42.26%
View na12878 compound_heterozygous 14 rs1136165
dbSNP Clinvar 		103988180 102.64 G T PASS 0/1 8 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.65775 0.65770 0.36631 None None None None None None CKB|0.155239483|42.26%

CLC
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 na12878 compound_heterozygous 19 rs384138
dbSNP Clinvar 		40224986 7233.6 A G PASS 1/1 173 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.60923 0.60920 0.30071 None None None None None None CLC|0.000863861|96.26%

CLIP1
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 na12878 compound_heterozygous 12 rs79909185
dbSNP Clinvar 		122845698 865.85 C A FDRtranche1.00to10.00+ 0/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47085 0.47080 0.00 1.00 None None None None None None CLIP1|0.65719402|9.83%

CNGA1
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 na12878 compound_heterozygous 4 rs201633176
dbSNP Clinvar 		47938801 49.0 G T ESPStandard;LowQual 0/1 279 STOP_GAINED HIGH NONSENSE None None None None None None NIPAL1|0.065350151|58.53%,CNGA1|0.095013818|52.11%

CNOT1
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 na12878 compound_heterozygous 16 rs11540994
dbSNP Clinvar 		58575489 2479.97 G A PASS 0/1 158 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.48522 0.48520 0.39812 None None None None None None CNOT1|0.849359651|4.66%
View na12878 compound_heterozygous 16 rs246258
dbSNP Clinvar 		58579274 9222.47 C T PASS 0/1 462 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.28435 0.28430 0.22176 None None None None None None CNOT1|0.849359651|4.66%

COMT
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 na12878 compound_heterozygous 22 rs4633
dbSNP Clinvar 		19950235 2927.65 C T PASS 0/1 172 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%
View na12878 compound_heterozygous 22 rs4818
dbSNP Clinvar 		19951207 2140.01 C G PASS 0/1 127 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%
View na12878 compound_heterozygous 22 rs4680
dbSNP Clinvar 		19951271 2109.78 G A PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.36921 0.36920 0.45148 0.09 0.08 None None None None None None COMT|0.166055932|40.8%

CPN2
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 na12878 compound_heterozygous 3 rs4974539
dbSNP Clinvar 		194061907 916.21 G A PASS 0/1 69 STOP_GAINED HIGH NONSENSE 0.28015 0.28020 0.34453 None None None None None None CPN2|0.013888065|77.95%

CPOX
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 na12878 compound_heterozygous 3 rs1729995
dbSNP Clinvar 		98304467 3452.89 T C PASS 1/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CRYBA4
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 na12878 compound_heterozygous 22 rs5761637
dbSNP Clinvar 		27021457 4327.47 T C PASS 1/1 109 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CRYL1
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 na12878 compound_heterozygous 13 rs14236
dbSNP Clinvar 		21063524 4535.45 A G PASS 0/1 266 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.27037 0.27040 0.29022 None None None None None None CRYL1|0.031917441|68.66%

CRYM
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 na12878 compound_heterozygous 16 rs14122
dbSNP Clinvar 		21272591 3190.45 G C PASS 0/1 169 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50260 0.50260 0.46853 None None None None None None CRYM|0.245016591|32%

CSF1R
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 na12878 compound_heterozygous 5 rs56327604
dbSNP Clinvar 		149435608 3878.49 G C PASS 0/1 172 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.01258 0.01258 0.03076 None None None None None None CSF1R|0.136347301|44.94%

CYP11B2
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 na12878 compound_heterozygous 8 rs4538
dbSNP Clinvar 		143994702 280.79 G T PASS 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP21A2
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 na12878 compound_heterozygous 6 rs6464
dbSNP Clinvar 		32006337 304.64 C A FDRtranche1.00to10.00+ 1/1 9 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None CYP21A2|0.039907204|65.79%
View na12878 compound_heterozygous 6 rs6469
dbSNP Clinvar 		32008451 123.08 C T PASS 0/1 7 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None CYP21A2|0.039907204|65.79%

CYP2A13
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 na12878 compound_heterozygous 19 rs75703079
dbSNP Clinvar 		41595958 626.7 C T PASS 0/1 60 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 1.00 0.01 None None None None None None CYP2A13|0.03541962|67.35%

CYP2C9
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 na12878 compound_heterozygous 10 rs1799853
dbSNP Clinvar 		96702047 6976.82 C T PASS 0/1 377 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04792 0.04792 0.09554 0.05 0.99 None None None None None None CYP2C9|0.012154792|79.12%

CYP2D6
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 na12878 compound_heterozygous 22 rs28371704
dbSNP Clinvar 		42525811 182.37 T C PASS 0/1 22 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.06929 0.06929 1.00 0.00 None None None None None None CYP2D6|0.040319287|65.66%