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
RS111840903 BLTP1 Health Risk Conflicting classifications of pathogenicity Alkuraya-Kucinskas syndrome, BLTP1-related disorder
RS111846397 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111846884 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS111848145 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS111851524 CFHR1 Health Risk Conflicting classifications of pathogenicity —
RS111851677 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Beta-thalassemia HBB/LCRB
RS111851815 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS111852098 PTPN23 Health Risk Conflicting classifications of pathogenicity —
RS111854391 TGFBR1 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome
RS111854563 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS111856468 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS111856492 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111858392 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS111858832 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Ovarian serous cystadenocarcinoma
RS111859466 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS111861429 NCKAP5 Health Risk Conflicting classifications of pathogenicity —
RS111863059 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS111863748 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS111863978 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS111865190 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS111866410 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal adenoma
RS111866498 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS111867535 KCNJ5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS111871863 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS111877243 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS111879470 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MDH2-related disorder
RS111883853 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS111888148 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS111889921 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS111901323 IFT52 Health Risk Conflicting classifications of pathogenicity IFT52-related disorder, IFT52-related disorder
RS111901413 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS111906016 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS111906560 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111909155 LRP2 Health Risk Pathogenic —
RS111911126 GYS1 Health Risk Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS111912673 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS111915712 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, CEP164-related disorder
RS111916311 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS111917814 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS111920492 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS111927109 REEP2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
RS111927395 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS111929073 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS111929350 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111933069 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS111933113 TTN Health Risk Conflicting classifications of pathogenicity —
RS111936548 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS111936933 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Hereditary sensory and autonomic neuropathy
RS111939130 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS111940956 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS111941389 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS111947397 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS111947578 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 24
RS111950016 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS111950018 DAAM2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 24
RS111951711 SEC23B Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia
RS111951959 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS111953130 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Nonpapillary renal cell carcinoma
RS111957225 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, GH1-related disorder
RS11196205 TCF7L2 Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS111967655 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS111969225 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS111970242 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS111972736 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS111972756 TNNC1 Health Risk Pathogenic —
RS111975186 ALDH6A1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, ALDH6A1-related disorder
RS111976711 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS111978474 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS111978809 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS111978932 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS111981744 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS111983425 PKD1L1 Health Risk Conflicting classifications of pathogenicity PKD1L1-related disorder, PKD1L1-related disorder
RS111984349 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS111986316 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS11199064 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS111991507 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS111991705 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS111992415 UMOD Health Risk Conflicting classifications of pathogenicity Kidney disorder, UMOD-related disorder
RS111993466 INSR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111996685 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS112002192 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS112002462 TAF2 Health Risk Conflicting classifications of pathogenicity Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
RS112005636 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Retinal dystrophy
RS11200638 HTRA1 Health Risk risk factor Age related macular degeneration 7, Age related macular degeneration 7
RS112007817 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS112009206 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS112016439 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS112023055 ANTXR2 Health Risk Conflicting classifications of pathogenicity Hyaline fibromatosis syndrome, ANTXR2-related disorder
RS112025212 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS112025387 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS112026097 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS112029032 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS112029328 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS112029370 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS112030234 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS112030253 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS11203366 PADI4 Health Risk Benign; association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS11203367 PADI4 Health Risk Benign; association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS112034381 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS112034997 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
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