SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS928706699 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS928709083 F13B Health Risk Pathogenic Cholesteatoma, Cholesteatoma
RS928721752 MSH3 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS928731575 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS928740437 NACC1 Health Risk Conflicting classifications of pathogenicity Microcephaly, Inborn genetic diseases
RS928744634 HNF1A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, 6 conditions
RS928746429 DDR2 Health Risk Pathogenic —
RS928788426 WDR81 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS928803207 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Autosomal recessive retinitis pigmentosa
RS928811814 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS928813600 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS928862880 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS928866725 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS928887003 CUL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
RS928915940 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS928923556 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS928940812 VCAN Health Risk Pathogenic —
RS928945364 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS928979051 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS928989953 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, King Denborough syndrome
RS928991928 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS929007085 ANKRD11 Health Risk Pathogenic KBG syndrome, Monogenic short statue
RS929019284 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS929020615 CTSF Health Risk Likely pathogenic CTSF-related disorder, CTSF-related disorder
RS929034631 ADGRV1 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS929041171 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS929042482 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS929083218 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS929121557 POLR3B Health Risk Likely pathogenic —
RS929128705 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS929157192 TMCO1 Health Risk Likely pathogenic Craniofacial dysmorphism, skeletal anomalies
RS929163153 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS929186272 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS929301467 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS929302665 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS929311433 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS929322688 DYNC2H1 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS929328527 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS929329118 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS929332564 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS929337545 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS929358843 SHANK3 Health Risk Conflicting classifications of pathogenicity Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS929383309 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS929423104 MOCS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS929429805 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS929469507 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS929474806 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS929482812 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS929489764 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS929527043 MAP3K7 Health Risk Conflicting classifications of pathogenicity Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS929537284 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Intrauterine growth retardation
RS929538989 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS929548279 DNHD1 Health Risk Conflicting classifications of pathogenicity DNHD1-related disorder, DNHD1-related disorder
RS929589127 NFIX Health Risk Conflicting classifications of pathogenicity Marshall-Smith syndrome, Malan overgrowth syndrome
RS929628076 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS929649978 XPC Health Risk Conflicting classifications of pathogenicity —
RS929663686 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS929676419 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS929684384 COL4A4 Health Risk Pathogenic Benign familial hematuria, Alport syndrome
RS929713295 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia
RS929720505 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS929722223 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS929726147 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS929750748 DZIP1L Health Risk Likely pathogenic Polycystic kidney disease 5, Polycystic kidney disease 5
RS929755522 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS929758799 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS929758807 TOGARAM2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS929766806 SAG Health Risk Likely pathogenic Oguchi disease, Oguchi disease
RS929767929 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS929798338 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS929806900 DNMT3A Health Risk Likely pathogenic —
RS929817187 RELA Health Risk Pathogenic —
RS929898540 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS929909433 CYP26C1 Health Risk Likely pathogenic Focal facial dermal dysplasia type IV, Focal facial dermal dysplasia type IV
RS929941099 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS930034802 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS930062661 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS930082957 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS930102975 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS930107496 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS930107993 LAMA1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, congenital
RS930116181 THSD4 Health Risk Conflicting classifications of pathogenicity —
RS930144563 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS930146121 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS930190521 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS930220089 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS930283260 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS930284229 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS930325486 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS930347206 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS930358086 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS930359553 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS930365498 PDX1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Pancreatic agenesis 1
RS930378312 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS930378570 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS930408087 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS930421180 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS930432793 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS930434905 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS930495767 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
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