SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1064794483 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794486 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794487 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794489 MAP2K2 Health Risk Conflicting classifications of pathogenicity —
RS1064794494 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS1064794495 SCN1A Health Risk Likely pathogenic —
RS1064794503 SCN1A Health Risk Pathogenic —
RS1064794504 TSC1 Health Risk Pathogenic —
RS1064794505 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794508 SCN1A Health Risk Likely pathogenic —
RS1064794521 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794522 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794524 GAA Health Risk Likely pathogenic —
RS1064794533 GNAO1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS1064794535 SMARCA4 Health Risk Likely pathogenic —
RS1064794536 RAB3GAP1 Health Risk Pathogenic/Likely pathogenic Warburg micro syndrome 1, RAB3GAP1-related disorder
RS1064794538 KCNQ1 Health Risk Likely pathogenic —
RS1064794540 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1064794548 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1064794550 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794551 WHRN Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS1064794552 COL3A1 Health Risk Pathogenic —
RS1064794555 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1064794561 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794566 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794568 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Lissencephaly due to TUBA1A mutation
RS1064794569 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1064794571 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1064794572 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1064794573 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS1064794574 DDX3X Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, X-linked intellectual disability-hypotonia-movement disorder syndrome
RS1064794577 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1064794586 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS1064794589 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1064794596 SCN4A Health Risk Likely pathogenic —
RS1064794600 MYCN Health Risk Likely pathogenic —
RS1064794603 LTBP3 Health Risk Likely pathogenic —
RS1064794604 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1064794606 NIPBL Health Risk Likely pathogenic —
RS1064794609 CHMP1A Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 8
RS1064794611 POLE Health Risk Conflicting classifications of pathogenicity —
RS1064794612 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1064794616 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1064794618 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1064794619 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1064794623 MLYCD Health Risk Likely pathogenic —
RS1064794624 EP300 Health Risk Pathogenic —
RS1064794626 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064794628 SOX11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS1064794629 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1064794630 SCN1A Health Risk Likely pathogenic —
RS1064794631 IL2RG Health Risk Likely pathogenic —
RS1064794632 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1064794634 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1064794638 SATB2 Health Risk Likely pathogenic —
RS1064794641 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1064794643 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1064794647 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064794649 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS1064794652 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1064794653 MNX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MNX1-related disorder
RS1064794654 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1064794656 DNM1L Health Risk Pathogenic Optic atrophy 5, Optic atrophy 5
RS1064794657 PHKA2 Health Risk Likely pathogenic —
RS1064794659 CIITA Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 1
RS1064794662 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794664 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1064794668 BRIP1 Health Risk Pathogenic —
RS1064794669 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1064794671 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1064794672 NIPBL Health Risk Likely pathogenic —
RS1064794676 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1064794679 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064794681 GABRA1 Health Risk Likely pathogenic —
RS1064794682 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1064794684 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064794685 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794686 KCNQ2 Health Risk Likely pathogenic —
RS1064794687 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794689 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794690 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS1064794691 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1064794692 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794694 HSD17B10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HSD10 mitochondrial disease
RS1064794696 AUTS2 Health Risk Pathogenic —
RS1064794697 TRPS1 Health Risk Likely pathogenic —
RS1064794698 ZIC1 Health Risk Conflicting classifications of pathogenicity —
RS1064794701 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794702 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, SOX11-related disorder
RS1064794703 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794704 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794708 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794709 DSG2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
RS1064794711 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS1064794713 MYT1L Health Risk Likely pathogenic —
RS1064794715 SCN8A Health Risk Pathogenic —
RS1064794716 TTN Health Risk Likely pathogenic —
RS1064794718 RNF113A Health Risk Likely pathogenic —
RS1064794719 PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Inborn genetic diseases
RS1064794721 SCN2A Health Risk Likely pathogenic —
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