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
RS201584115 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Cleidocranial dysostosis
RS201584227 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS201584397 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201584464 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS201584482 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS201584510 B3GLCT Health Risk Likely pathogenic Peters plus syndrome, Peters plus syndrome
RS201584652 KRT1 Health Risk Conflicting classifications of pathogenicity KRT1-related disorder, Inborn genetic diseases
RS201584824 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS201585283 PDYN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201585594 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS201585635 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS201586136 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS201586263 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS201586544 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS201586629 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Vitelliform macular dystrophy 2
RS201586695 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201586936 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hereditary skeletal muscle disorder
RS201587138 LOXHD1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 77
RS201587159 HAMP Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 2B
RS201587614 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS201587670 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS201587698 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201587923 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS201588033 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201588259 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myasthenic syndrome 12
RS201588422 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS201588519 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS201588544 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS201588551 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS201589544 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS201589579 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS201589586 ANKRD11 Health Risk Likely pathogenic KBG syndrome, Inborn genetic diseases
RS201589645 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS201589664 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS201589909 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201590073 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS201590142 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS201590426 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS201590858 MAFB Health Risk Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy, MAFB-related disorder
RS201590882 ARMC9 Health Risk Conflicting classifications of pathogenicity Corpus callosum, agenesis of
RS201590918 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201591116 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS201591441 NARS2 Health Risk Conflicting classifications of pathogenicity NARS2-related disorder, Intellectual disability
RS201591531 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS201591640 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Inborn genetic diseases
RS201591679 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS201591857 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS201591901 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS201591982 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS201592328 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS201592500 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
RS201592683 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS201592726 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS201592851 PXDN Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 7, PXDN-related disorder
RS201592854 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS201593004 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS201593267 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201593863 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS201593974 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH17-related disorder
RS201594549 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201595005 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS201595239 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS201595274 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS201595604 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201595662 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS201596087 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS201596200 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201596289 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201596327 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS201596732 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Ovarian serous cystadenocarcinoma
RS201596849 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Connective tissue disorder
RS201597047 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS201597085 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, 8 conditions
RS201597166 DHH Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 7
RS201597369 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS201597537 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS201597771 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS201597816 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS201598330 SDR9C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201598401 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS201598915 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS201598971 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS201599168 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS201599169 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS201599402 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201599540 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS201599657 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS201599911 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS201600076 DEAF1 Health Risk Likely pathogenic Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability
RS201600087 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS201600575 TBXAS1 Health Risk Conflicting classifications of pathogenicity —
RS201600613 PLEKHF1 Health Risk Conflicting classifications of pathogenicity —
RS201600949 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS201601053 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS201601768 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS201601967 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS201601985 KMT2E Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 40
RS201601992 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS201602424 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS201602783 MYH3 Health Risk Conflicting classifications of pathogenicity —
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