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
RS1204647586 PLXNA1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome
RS1204653825 CCM2 Health Risk Likely pathogenic —
RS1204659204 OGT Health Risk Likely pathogenic —
RS1204664319 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS1204692060 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1204708376 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1204728357 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1204728952 USH2A Health Risk Likely pathogenic —
RS1204734473 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1204741025 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1204744283 LIPA Health Risk Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS1204749077 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS1204749633 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1204763173 COL9A2 Health Risk Pathogenic —
RS1204764976 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1204766339 RAG2 Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Combined immunodeficiency with skin granulomas
RS1204788520 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1204814114 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS1204830852 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1204832680 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1204835904 CYP11B2 Health Risk Pathogenic —
RS1204839587 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1204840140 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease
RS1204856744 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1204857679 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1204867394 SEPSECS Health Risk Likely pathogenic —
RS1204868565 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1204905333 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1204909245 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS12049100 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS1204915217 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiac arrhythmia
RS1204924769 NPHP4 Health Risk Likely pathogenic Nephronophthisis 4, Senior-Loken syndrome 4
RS1204972424 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1204990361 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1205000981 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS1205006300 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1205019601 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1205026049 ALMS1 Health Risk Conflicting classifications of pathogenicity ALMS1-related disorder, Cardiovascular phenotype
RS1205027821 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS1205029214 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1205044520 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1205047449 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1205051168 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS1205064584 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1205077486 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1205111368 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS1205172165 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1205189543 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS1205192306 CYP11B2 Health Risk Pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS1205259499 IFNAR2 Health Risk Pathogenic —
RS1205280922 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1205283728 MED13L Health Risk Pathogenic —
RS1205301894 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1205322456 USH2A Health Risk Likely pathogenic —
RS1205325321 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1205346910 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1205361096 FECH Health Risk Likely pathogenic —
RS1205382497 RP1L1 Health Risk Pathogenic —
RS1205392044 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1205403546 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1205407134 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1205407936 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1205409465 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1205429003 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1205477836 UGT1A1 Health Risk Likely pathogenic —
RS1205480064 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1205501595 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1205507761 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1205517548 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiofaciocutaneous syndrome 4
RS1205536026 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-related disorder
RS1205552952 KCNQ1 Health Risk Likely pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS1205557903 TCOF1 Health Risk Likely pathogenic TCOF1-related disorder, TCOF1-related disorder
RS1205598688 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS1205610948 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1205613982 VPS13B Health Risk Pathogenic Retinitis pigmentosa, Cohen syndrome
RS1205637557 RAB3GAP1 Health Risk Pathogenic —
RS1205645084 NBAS Health Risk Pathogenic/Likely pathogenic Autosomal recessive NBAS-related disorders, Autosomal recessive NBAS-related disorders
RS1205657950 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1205668341 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1205685022 MSR1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1205686109 NAXE Health Risk Likely pathogenic Encephalopathy, progressive
RS1205704532 ALMS1 Health Risk Pathogenic Retinal dystrophy, Alstrom syndrome
RS1205712508 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1205746953 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1205748381 AHCY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS1205756499 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS1205776232 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1205781478 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1205782054 HERC1 Health Risk Pathogenic —
RS1205783002 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1205793780 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS1205797949 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS1205803331 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1205836993 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1205842358 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS1205847358 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANKRD26-related disorder
RS1205866071 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1205882839 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1205889080 TMPRSS3 Health Risk Pathogenic —
RS1205890585 FHOD3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic
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