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
RS1452598874 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS145260115 TNNI3K Health Risk Conflicting classifications of pathogenicity Atrial conduction disease, TNNI3K-related disorder
RS145260482 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS145260922 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS145262800 SORBS3 Health Risk Conflicting classifications of pathogenicity —
RS1452632059 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS145263539 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS145263744 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1452644432 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS145264797 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, INPP5E-related disorder
RS1452649119 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS145265055 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS145265323 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS145265345 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS145265774 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS145265791 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 3, Retinal dystrophy
RS145266399 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Adult-onset proximal spinal muscular atrophy
RS145266746 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS145266970 DMD Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Duchenne muscular dystrophy
RS145267254 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS145267929 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS1452679706 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS145268073 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
RS145268448 AMPD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS1452685600 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS1452688134 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS145269003 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS145269223 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS145269995 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease 2
RS145270402 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1452715525 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1452715535 KMT2D Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome 1
RS145272328 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS145272522 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, ZNF423-related disorder
RS145272777 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1452728096 AR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS145273174 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS145273962 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS145274061 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS145274257 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, CCDC78-related disorder
RS1452751760 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS145275500 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Familial cancer of breast
RS1452755931 AGBL5 Health Risk Pathogenic —
RS1452760098 SPTB Health Risk Conflicting classifications of pathogenicity —
RS1452774826 GUCY2D Health Risk Pathogenic Congenital blindness, Congenital blindness
RS1452779317 CEP57 Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS1452780161 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145278314 HTR3B Health Risk Conflicting classifications of pathogenicity —
RS1452787032 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Inborn genetic diseases
RS1452792080 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS145279584 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS145279682 TRAK1 Health Risk Conflicting classifications of pathogenicity —
RS145280017 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1452803548 WT1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1452804900 EYS Health Risk Pathogenic —
RS145280665 TUBB1 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS1452811720 KLF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145282040 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1452826319 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145284180 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1452844753 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS145285304 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS145285434 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1452859057 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS145286036 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS145286580 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, childhood-onset
RS145287138 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS145288025 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS145288396 POF1B Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 2B, Premature ovarian failure 2B
RS1452888068 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS145288815 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS145288947 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS145289229 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS145289559 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS1452899724 PGM2L1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, dysmorphic facies
RS1452906057 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS145292008 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS145292760 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS145293873 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS145294634 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 3
RS1452949965 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1452952856 GLS Health Risk Likely pathogenic —
RS145295628 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS145296488 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS145297180 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1452976388 HPS3 Health Risk Pathogenic —
RS145297799 NPC1L1 Health Risk association LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7, LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
RS145297855 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS145298434 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1452984345 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS145299777 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145300090 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD8-related disorder
RS145300204 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1453006216 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS145300726 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS145300824 ABCG5 Health Risk Pathogenic/Likely pathogenic Sitosterolemia, Cardiovascular phenotype
RS145301300 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS145301478 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS145302969 CFAP58 Health Risk Likely pathogenic Spermatogenic failure 49, Spermatogenic failure 49
RS145303331 PIGL Health Risk Pathogenic CHIME syndrome, 8 conditions
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