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
RS1260533788 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1260540509 CASR Health Risk Pathogenic Hypocalcemia, CASR-related disorder
RS1260545974 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1260580183 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1260585219 NR2E3 Health Risk Pathogenic —
RS1260595479 SATB1 Health Risk Conflicting classifications of pathogenicity Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS1260631800 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1260635377 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1260647938 UBR1 Health Risk Pathogenic —
RS1260660049 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1260685558 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1260699314 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1260778090 SLC34A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1260789761 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1260794121 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1260794203 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1260807695 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1260821931 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1260869746 ZC4H2 Health Risk Pathogenic/Likely pathogenic Wieacker-Wolff syndrome, Thyroid cancer
RS1260870046 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS1260874342 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS1260879887 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1260896676 CTSC Health Risk Likely pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS1260902476 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1260916310 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Meniere disease
RS1260931426 IMPG2 Health Risk Pathogenic —
RS1260932753 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1260934774 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1260936028 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1260938579 POLH Health Risk Likely pathogenic —
RS1260941612 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1260959326 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 10, Joubert syndrome
RS1260965687 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1260966020 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1260966131 PRRT2 Health Risk Pathogenic/Likely pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1260969698 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1260972155 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS1260978141 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1260995701 LSS Health Risk Pathogenic Hypotrichosis 14, Hypotrichosis 14
RS1261020269 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1261058897 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1261060049 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1261069493 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1261069673 GNB5 Health Risk Likely pathogenic —
RS1261081427 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS1261095563 OCA2 Health Risk Pathogenic —
RS1261101487 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1261105707 ESRRB Health Risk Likely pathogenic ESRRB-related disorder, ESRRB-related disorder
RS1261146655 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1261149781 WFS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1261169167 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1261172926 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS1261178797 ASXL1 Health Risk Pathogenic Myelodysplasia, Myelodysplasia
RS1261194928 EMC1 Health Risk Likely pathogenic —
RS1261219212 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1261223764 ABCC2 Health Risk Pathogenic —
RS1261241939 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1261260994 ADAMTSL4 Health Risk Pathogenic —
RS1261268687 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS1261272739 SYNE1 Health Risk Pathogenic —
RS1261282733 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS1261285510 DLL3 Health Risk Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS1261311680 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS1261315093 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1261317873 PDE6A Health Risk Pathogenic —
RS1261331062 TRIO Health Risk Likely pathogenic —
RS1261358932 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1261363915 NGLY1 Health Risk Pathogenic —
RS1261385032 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1261397461 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1261418744 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1261458082 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1261495861 GTPBP3 Health Risk Pathogenic —
RS1261498405 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1261505725 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Asphyxiating thoracic dystrophy 3
RS1261509815 POLR3B Health Risk Pathogenic —
RS1261515352 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS1261517099 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1261538447 GATAD2B Health Risk Conflicting classifications of pathogenicity —
RS1261543038 ASXL2 Health Risk Conflicting classifications of pathogenicity —
RS1261578129 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1261582084 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1261588058 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1261590134 OTOA Health Risk Pathogenic —
RS1261601321 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1261611694 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1261612920 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Colorectal cancer
RS1261616099 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1261627387 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS1261633400 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1261638807 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1261639905 RAB18 Health Risk Pathogenic —
RS1261640800 CEP78 Health Risk Pathogenic —
RS1261660052 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
RS1261664276 MYO15A Health Risk Pathogenic —
RS1261674855 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1261676471 TMEM126B Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 29
RS1261680398 MED12 Health Risk Conflicting classifications of pathogenicity MED12-related disorder, FG syndrome
RS1261697960 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1261703349 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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