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
RS769767296 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS769767420 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS769767723 CEP78 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS769768100 MYO15A Health Risk Pathogenic —
RS769768815 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS769769379 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS769770182 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome
RS769772100 PEX16 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder
RS769772228 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS769773673 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, NOTCH3-related disorder
RS769773725 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS769773974 ITM2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ITM2B-related disorder
RS769776095 DUOXA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DUOXA2-related disorder
RS769776374 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS769776739 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS76977934 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity ATP6V0A4-related disorder, ATP6V0A4-related disorder
RS76978024 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS769780647 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder
RS769781641 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS769781778 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS769782500 ABCB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769783770 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS769783908 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS769783985 COL4A4 Health Risk Pathogenic Hematuria, benign familial
RS769784112 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769784635 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS769784756 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 1
RS769785004 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS769786026 ARID2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 6, Inborn genetic diseases
RS769786110 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS769786449 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS769786870 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS769787486 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS769787871 NEB Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS769789232 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS769789467 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS769791060 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS769791652 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS769791945 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS769791947 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, COL1A1-related disorder
RS769792093 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS769795486 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS769795690 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS769795873 ERCC2 Health Risk Pathogenic/Likely pathogenic Trichothiodystrophy 1, photosensitive
RS769795916 DNAH9 Health Risk Pathogenic/Likely pathogenic Abnormal cardiovascular system morphology, Ciliary dyskinesia
RS769796932 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS769797413 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS769798104 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS769798147 ATP1A2 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 1, Migraine
RS769798659 ABCC2 Health Risk Pathogenic —
RS769798880 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769799503 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiovascular phenotype
RS769799880 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS769800244 ARPC1B Health Risk Pathogenic —
RS769801846 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS769802282 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
RS769802374 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS769802444 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS769803656 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS769803878 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS769805747 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS769805966 GOLGA2 Health Risk Pathogenic —
RS769806467 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS769807644 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769807904 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS769808745 ITGA6 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 6
RS769808777 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS769812078 POP1 Health Risk Pathogenic —
RS769812175 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS769812697 CTSA Health Risk Pathogenic GALACTOSIALIDOSIS, LATE INFANTILE
RS769814019 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS769815091 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS769816345 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS769817013 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS769817025 ABCA12 Health Risk Pathogenic —
RS769817076 NT5C3A Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS769817685 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS769818500 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS769818518 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS769818541 GUCY2D Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 6
RS769819013 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769819121 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS769820955 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS769821404 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769821441 PPA2 Health Risk Conflicting classifications of pathogenicity —
RS769821628 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Familial cancer of breast
RS769821764 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS769822096 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS769822399 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769824247 LMOD3 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 10, LMOD3-related disorder
RS769824680 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS769824862 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS769824863 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS769824975 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS769825641 SYCP3 Health Risk Pathogenic Spermatogenic failure 4, Gastric cancer
RS769826070 CFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769826402 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS769826891 MTFMT Health Risk Pathogenic —
RS769826925 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS769827124 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
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