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
RS148944108 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1489442842 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS148944333 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS148944625 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS148944691 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, ALDH3A2-related disorder
RS148945108 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS148945502 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS148945966 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS148946382 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS148946391 GUCY2C Health Risk Conflicting classifications of pathogenicity Meconium ileus, Meconium ileus
RS1489466696 TBC1D24 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS148947094 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS148947510 DES Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Desmin-related myofibrillar myopathy
RS1489483742 TBCD Health Risk Pathogenic —
RS148948607 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS148948642 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS148949172 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148949789 HMOX1 Health Risk Conflicting classifications of pathogenicity —
RS1489498331 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS148950085 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS148951121 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS148951882 PHYH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148952288 ITSN2 Health Risk Conflicting classifications of pathogenicity —
RS1489525542 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS1489530369 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Oto-palato-digital syndrome
RS148953711 WFS1 Health Risk Pathogenic/Likely pathogenic WFS1-related disorder, Autosomal dominant nonsyndromic hearing loss 6
RS148954170 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS148954387 SPINK1 Health Risk Pathogenic/Likely pathogenic Hereditary pancreatitis, Chronic pancreatitis
RS1489548085 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148955573 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS148955716 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS1489564718 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148956533 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS148956636 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS148957473 VSX1 Health Risk Conflicting classifications of pathogenicity Posterior polymorphous corneal dystrophy, Keratoconus 1
RS1489575349 PIP5K1C Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 3, Inborn genetic diseases
RS1489580832 ATR Health Risk Pathogenic —
RS148959244 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS148959452 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS148960463 POLK Health Risk Conflicting classifications of pathogenicity Prostate cancer, Neurodevelopmental delay
RS148961199 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS148961412 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS148961522 DDX54 Health Risk Conflicting classifications of pathogenicity Multiple renal cysts, Reduced renal corticomedullary differentiation
RS148962110 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS1489623582 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148962954 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS148962966 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS1489629664 SLC26A3 Health Risk Pathogenic —
RS1489630072 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome type 1
RS1489634479 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS148963479 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, TCN2-related disorder
RS1489638195 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS148963942 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1489647083 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS148965783 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148965852 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS1489663673 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148966602 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy
RS1489666051 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS148966683 REST Health Risk Conflicting classifications of pathogenicity REST-related disorder, Inborn genetic diseases
RS148967240 TSPEAR Health Risk Conflicting classifications of pathogenicity TSPEAR-related disorder, TSPEAR-related disorder
RS1489674192 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS148967962 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1489679976 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1489682011 COL4A3 Health Risk Likely pathogenic Hematuria, benign familial
RS148968498 KCNE2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1489686376 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148969222 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS148969710 CENPE Health Risk Conflicting classifications of pathogenicity CENPE-related disorder, CENPE-related disorder
RS1489698141 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS148969864 ATG4D Health Risk Conflicting classifications of pathogenicity ASHER, ATG4D-related neurodevelopmental condition
RS148970069 THBS2 Health Risk Conflicting classifications of pathogenicity —
RS148970081 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS148970242 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS148970681 CACNA2D4 Health Risk Conflicting classifications of pathogenicity —
RS1489708596 TNXB Health Risk Likely pathogenic —
RS148970984 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1489711400 PEX1 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS148971334 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS148971572 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1489716280 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS148971954 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS148972050 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS148972137 AR Health Risk Conflicting classifications of pathogenicity Kennedy disease, Androgen resistance syndrome
RS1489728717 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS148973222 FAM186B Health Risk Conflicting classifications of pathogenicity —
RS148973591 DHX37 Health Risk Conflicting classifications of pathogenicity DHX37-related disorder, Inborn genetic diseases
RS1489738488 TTC29 Health Risk Pathogenic Spermatogenic failure 42, Spermatogenic failure 42
RS1489740997 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1489743522 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS148975469 ESPN Health Risk Conflicting classifications of pathogenicity —
RS148975567 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS148975919 AK2 Health Risk Conflicting classifications of pathogenicity Reticular dysgenesis, Familial cancer of breast
RS148976481 DNAJB11 Health Risk Pathogenic —
RS1489766065 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome 10
RS148976897 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Nephrocalcinosis
RS148977089 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, CYP4F22-related disorder
RS148977164 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148978269 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS1489795776 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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