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
RS147972823 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS1479728870 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1479733252 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS147973409 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CACNA1D-related disorder
RS147973580 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Inborn genetic diseases
RS147973675 APOL1 Health Risk Conflicting classifications of pathogenicity —
RS1479740763 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS147974432 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder
RS147974629 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS147975759 PPARG Health Risk Conflicting classifications of pathogenicity Obesity, INSULIN RESISTANCE
RS1479765434 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS147976828 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, MED13L-related disorder
RS147977213 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS147978393 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1479789276 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS147979953 DNAAF6 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS1479800564 VPS13A Health Risk Likely pathogenic —
RS147980100 FGFRL1 Health Risk Conflicting classifications of pathogenicity —
RS147980436 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1479804676 COMP Health Risk Likely pathogenic —
RS1479808203 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1479815532 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147982027 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1479831530 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1479835169 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS147983523 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS147984554 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS147984942 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS1479854121 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1479865221 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1479870307 BUB1 Health Risk Pathogenic Microcephaly 30, primary
RS1479871006 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS147987573 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS147987917 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1479880253 AEBP1 Health Risk Pathogenic —
RS1479881544 TGM1 Health Risk Pathogenic —
RS1479884552 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1479892874 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS147989324 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
RS147989574 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS147989825 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, ANO10-related disorder
RS147990540 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147990983 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS147991100 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 1
RS147991883 CNGB3 Health Risk Conflicting classifications of pathogenicity —
RS147992238 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS147992979 NTRK3 Health Risk Conflicting classifications of pathogenicity Neonatal cardiomyopathy, Neonatal cardiomyopathy
RS147993163 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS147993236 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS147993402 ATN1 Health Risk Conflicting classifications of pathogenicity —
RS147993882 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS147993981 NCKAP5 Health Risk Conflicting classifications of pathogenicity —
RS147994588 ATP11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147994992 GDF15 Health Risk Conflicting classifications of pathogenicity —
RS1479952680 TNPO3 Health Risk Likely pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS147995773 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS147997893 GLI1 Health Risk Conflicting classifications of pathogenicity —
RS147998041 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS147998933 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS147999915 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS148000219 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS148000769 PEX11B Health Risk Conflicting classifications of pathogenicity —
RS148001139 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS148001159 IL7R Health Risk Pathogenic/Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1480024542 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1480028040 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1480028945 C1QB Health Risk Conflicting classifications of pathogenicity C1Q deficiency 2, C1Q deficiency 2
RS148004022 CDC6 Health Risk Conflicting classifications of pathogenicity —
RS1480040525 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1480047980 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS148005190 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS148005445 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS148005738 KMT5B Health Risk Likely pathogenic —
RS1480059016 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148005959 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1480063127 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS148006498 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS1480068143 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS148006993 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, ABCG8-related disorder
RS1480070037 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS148007711 ADAM33 Health Risk Conflicting classifications of pathogenicity —
RS148007950 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148008235 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS148008303 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1480085793 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Brugada syndrome (shorter-than-normal QT interval)
RS148008634 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1480087006 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1480092350 ADAMTS2 Health Risk Conflicting classifications of pathogenicity —
RS148009259 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1480105908 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS148011561 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS7-related disorder
RS148012328 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS148012674 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS148014419 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS148015012 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Age related macular degeneration 2
RS1480162306 CLCNKB Health Risk Pathogenic —
RS1480163265 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS148016422 MADD Health Risk Likely pathogenic Deeah syndrome, Deeah syndrome
RS148016656 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148017278 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
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