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
RS768682743 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS768683470 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768684008 RNU12 Health Risk Pathogenic Craniosynostosis-anal anomalies-porokeratosis syndrome, Spinocerebellar ataxia
RS768684515 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768685242 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS768685630 CYP11B2 Health Risk Pathogenic —
RS768686147 UBR1 Health Risk Likely pathogenic —
RS768686539 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS768687579 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS768687646 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS768688000 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS768688793 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS768689871 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS768691315 ANO5 Health Risk Conflicting classifications of pathogenicity Myopathy, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS768691348 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS768691969 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS768692915 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768693028 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS768693502 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS768694189 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS768694342 TMC1 Health Risk Conflicting classifications of pathogenicity —
RS768694789 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS768694953 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS768695849 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS768697784 GDF5 Health Risk Conflicting classifications of pathogenicity Grebe syndrome, Acromesomelic dysplasia 2C
RS768697972 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768698639 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS768699378 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS768699825 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Seizures
RS768700664 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS768701175 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768701595 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness
RS768701760 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS768702294 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS768702304 LZTR1 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, LZTR1-related disorder
RS768702963 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS768703749 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS768704096 ATP6V1A Health Risk Conflicting classifications of pathogenicity ATP6V1A-related disorder, Vascular disorder
RS768704768 SERPINC1 Health Risk Pathogenic/Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS768705041 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS768705886 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS768706912 ABCC8 Health Risk Pathogenic —
RS768707273 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS768707639 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS768708852 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS768708962 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS768709875 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS768709895 LMBRD1 Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS768710385 LAMC3 Health Risk Likely pathogenic —
RS768710712 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS768710868 EYA4 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS768711214 NEU1 Health Risk Pathogenic Sialidosis, Sialidosis
RS768711345 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Inborn genetic diseases
RS768712648 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS768713412 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS768713596 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS768713729 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma
RS768715447 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768716174 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS76871760 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS768718216 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS768718791 EHHADH Health Risk Conflicting classifications of pathogenicity —
RS768718943 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS768719549 AMER3 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS768719934 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS768720064 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS768720209 FOXRED1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS768720976 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS768721723 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS768721880 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS768722316 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS76872266 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS768722904 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS768723651 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
RS768724007 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS768725365 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS768727078 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS768727082 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Inborn genetic diseases
RS768727228 MTX2 Health Risk Pathogenic 10 conditions, Mandibuloacral dysplasia progeroid syndrome
RS768727937 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS768728647 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768729972 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS768731337 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768731886 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Norman-Roberts syndrome
RS768732372 MTFMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768733110 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS768733117 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS768734132 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Melanoma
RS768734584 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS768734657 TMEM63A Health Risk Conflicting classifications of pathogenicity TMEM63A-related disorder, TMEM63A-related disorder
RS768735440 GLRA2 Health Risk Likely pathogenic See cases, See cases
RS768735660 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS768735888 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS768736321 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS768736409 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS768736851 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS768737101 DCHS1 Health Risk Pathogenic/Likely pathogenic Mitral valve prolapse, myxomatous 2
RS768737324 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS768737496 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS768737537 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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