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
RS779103482 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS779103881 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS779103938 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS779103998 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS779104357 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779104845 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS779106194 SKIC2 Health Risk Conflicting classifications of pathogenicity —
RS779106980 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS779108287 SKIC3 Health Risk Likely pathogenic —
RS779109533 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS779111855 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS779112096 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS779112403 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS779112405 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS779113356 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS779113995 LIAS Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS779114194 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS779114740 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779114883 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779116250 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 53, Autosomal dominant nonsyndromic hearing loss 13
RS779116830 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS779116918 LAMA2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS779117887 ADGRV1 Health Risk Likely pathogenic —
RS779118023 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS779119416 OTOF Health Risk Pathogenic —
RS779120472 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS779122022 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS779123395 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS779124360 KCNE1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
RS779126010 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS779126378 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS779129001 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779129066 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS779129603 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS779129892 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779130725 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779131358 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS779131373 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS779131465 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS779131632 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS779131886 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS779131897 LAMA3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Melanoma
RS779133902 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS779134450 RDX Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS779134560 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS779134983 TTC21B Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS779135088 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779135938 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS779135945 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS779137269 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779137772 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Inborn genetic diseases
RS779138399 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS779138756 NFAT5 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS779139301 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS779139584 SEC63 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 2, Polycystic liver disease 2
RS779140230 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS779140322 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS779140809 SLC34A3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS779140971 ETFA Health Risk Conflicting classifications of pathogenicity Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency
RS779141040 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779141908 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS779141922 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS779141940 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779142116 SYCE1 Health Risk Pathogenic —
RS779142717 TWNK Health Risk Pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS779142724 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS779142775 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779142813 ANLN Health Risk Conflicting classifications of pathogenicity —
RS779143637 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS779143800 RNU4ATAC Health Risk Likely pathogenic Osteodysplastic primordial dwarfism, type 1
RS779144176 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS779144252 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS779144910 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS779144943 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS779144962 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS779145014 NDUFAF5 Health Risk Likely pathogenic —
RS779145615 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS779145729 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779145849 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS779146700 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS779146752 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS779146886 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS779147984 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS779148597 ZEB1 Health Risk Pathogenic Corneal dystrophy, Fuchs endothelial
RS779148876 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS779148982 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779149681 DONSON Health Risk Pathogenic Microcephaly, short stature
RS779149827 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS779150349 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS779150753 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779150755 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 4
RS779150762 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS779151199 LMBRD1 Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Cobalamin C disease
RS779151375 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS779152335 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS779153546 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS779154593 BSCL2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2
RS779154669 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases
RS779154700 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS779155452 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
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