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
RS1028394725 TCIRG1 Health Risk Pathogenic Osteopetrosis, Autosomal recessive osteopetrosis 1
RS1028404937 HINT1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Autosomal recessive axonal neuropathy with neuromyotonia
RS1028428160 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1028445166 ELOVL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1028488967 MRPS2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
RS1028524252 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1028530418 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1028534806 ATP6V1E1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive cutis laxa type 2C, Cutis laxa
RS1028553365 GFER Health Risk Likely pathogenic —
RS1028553870 TP63 Health Risk Likely pathogenic Furrowed tongue, Furrowed tongue
RS1028566396 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1028569753 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1028583921 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS1028599119 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1028619685 PDYN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1028628066 MAB21L2 Health Risk Conflicting classifications of pathogenicity Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS1028631372 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1028639542 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1028653411 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1028668536 GALNS Health Risk Pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS1028670573 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1028685823 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1028703114 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1028735720 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS1028746179 QARS1 Health Risk Likely pathogenic —
RS1028784575 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS1028791709 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1028793473 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1028838062 PDE6C Health Risk Pathogenic/Likely pathogenic Achromatopsia, Cone dystrophy 4
RS1028877309 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1028907663 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS1028935047 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS1028961967 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1028991666 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related disorder
RS1028993119 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1028993341 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS1029026260 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1029069870 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1029096863 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1029122324 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1029188462 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1029207537 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1029215971 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1029227575 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1029261119 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1029281009 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1029299660 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS1029311669 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1029322575 ADAMTS17 Health Risk Pathogenic/Likely pathogenic Weill-Marchesani 4 syndrome, recessive
RS1029350022 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS1029371842 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1029377279 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1029389440 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1029442866 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1029475010 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1029500488 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1029503113 COL4A4 Health Risk Pathogenic —
RS1029543909 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1029564423 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1029569378 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1029640674 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1029645463 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1029691431 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases
RS1029699819 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1A
RS1029723713 TECTA Health Risk Pathogenic —
RS1029755113 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS1029840854 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS1029914579 LRP5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1029942798 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related disorder
RS1029955995 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS1029972302 OBSCN Health Risk Pathogenic —
RS1029990195 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1029997545 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1030039318 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS1030054011 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1030084592 ARID1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 14
RS1030149008 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS1030156757 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1030161382 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1030195503 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1030207622 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1030214435 EDARADD Health Risk Likely pathogenic Tooth agenesis, Tooth agenesis
RS1030218603 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1030229080 LAMC3 Health Risk Pathogenic —
RS1030245538 PANK2 Health Risk Likely pathogenic —
RS1030253516 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS1030279647 SHOX Health Risk Conflicting classifications of pathogenicity Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS1030312028 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1030329914 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1030366729 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1030392985 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1030404078 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1030446693 AP3B2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 48
RS1030446889 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1030467767 CYP21A2 Health Risk Pathogenic —
RS1030480370 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1030529431 PLA2G6 Health Risk Likely pathogenic —
RS1030545345 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1030546921 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS1030566286 EIF2B5 Health Risk Pathogenic —
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