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
RS1422167083 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS142217479 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS142217566 HYOU1 Health Risk Conflicting classifications of pathogenicity —
RS142217951 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, Inborn genetic diseases
RS142219317 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1422193527 ALDH1A3 Health Risk Pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS142219494 ERCC6 Health Risk Conflicting classifications of pathogenicity ERCC6-related disorder, ERCC6-related disorder
RS142219516 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1422201756 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS142220309 SLC25A22 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 3
RS142221587 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS142222746 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-related disorder
RS142223451 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS142223599 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS142223686 MCM3AP Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, autosomal recessive
RS142224458 FLAD1 Health Risk Conflicting classifications of pathogenicity —
RS142224492 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8
RS142224979 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1422250479 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1422251865 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1422262650 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS1422271977 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS142227576 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS142228240 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS1422285851 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS142228984 NPR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NPR3-related disorder
RS1422290691 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS142229551 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS142231053 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS142231129 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS142231389 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS142231499 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS142231563 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS142232675 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS1422332023 CNP Health Risk Pathogenic Myopia 2, autosomal dominant
RS1422333640 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS142233726 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS142234258 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1422346794 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1422350586 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS142236065 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS142236568 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Inborn genetic diseases
RS1422367603 ADGRV1 Health Risk Pathogenic —
RS142236825 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS142237067 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS1422371091 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS142237685 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142238093 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS1422381117 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS1422385556 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, COL6A1-related disorder
RS1422385923 RARS1 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
RS142239530 STIM1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency
RS1422405747 CYP2R1 Health Risk Pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS142240844 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS142242212 KRT6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142243299 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS142243359 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS142243482 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS142244640 RLBP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Newfoundland cone-rod dystrophy
RS142244984 CYP4V2 Health Risk Conflicting classifications of pathogenicity —
RS142245618 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS142245630 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS1422464917 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1422477670 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1422479161 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS142248228 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS142248792 AGPAT2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Congenital generalized lipodystrophy type 1
RS1422488942 EPG5 Health Risk Likely pathogenic Vici syndrome, EPG5-related disorder
RS142249689 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1422497202 MFRP Health Risk Pathogenic/Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1422501788 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1422502266 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1422505598 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS142251671 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1422519039 VPS16 Health Risk Pathogenic Dystonia 30, Dystonia 30
RS142252243 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS1422526172 SLC4A11 Health Risk Likely pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS142253169 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS142253225 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS1422532977 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS142253670 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS142254354 MCFD2 Health Risk Conflicting classifications of pathogenicity Factor 5 and Factor VIII, combined deficiency of
RS142254605 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TJP2-related disorder
RS1422575811 ANO6 Health Risk Pathogenic —
RS1422578175 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS142259322 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS142259966 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 43, Retinitis pigmentosa
RS1422604771 CFAP44 Health Risk Likely pathogenic Spermatogenic failure 20, Spermatogenic failure 20
RS142260648 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1422611896 MYH7 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS142261202 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS142262519 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142262555 SLC26A1;IDUA Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS1422628649 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1422629205 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS142263208 TACSTD2 Health Risk Conflicting classifications of pathogenicity Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS1422634212 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1422638161 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS142264176 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS142264458 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
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