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
RS762739500 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS762739726 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS762740616 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS762741561 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS762742204 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS762743107 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS762743550 DLL1 Health Risk Likely pathogenic DLL1-related disorder, DLL1-related disorder
RS762744146 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762744408 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762744684 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS762744897 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS762745836 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762745890 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS762746994 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS762746997 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS762747908 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mycobacterium tuberculosis
RS762750243 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS762750524 IFT140 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinitis pigmentosa 80
RS762750656 EMC1 Health Risk Pathogenic —
RS762751779 SKIC2 Health Risk Likely pathogenic Gastric cancer, Gastric cancer
RS762752112 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS762752733 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS762752949 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS762753715 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS762753747 CCIN Health Risk Pathogenic Spermatogenic failure 91, Spermatogenic failure 91
RS762753818 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS762753884 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS76275412 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Townes syndrome
RS762754313 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS762754861 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS762754951 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS762754992 CLCN1 Health Risk Pathogenic/Likely pathogenic Batten-Turner congenital myopathy, Congenital myotonia
RS76275519 EGF Health Risk Conflicting classifications of pathogenicity —
RS762756953 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS762757818 AGXT Health Risk Likely pathogenic —
RS762758607 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS762760856 CFAP44 Health Risk Pathogenic Spermatogenic failure 20, Spermatogenic failure 20
RS762761040 MBTPS2 Health Risk Conflicting classifications of pathogenicity —
RS762761194 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS762761380 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS762761680 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS762762143 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS762762408 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762764142 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS762764228 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AHDC1-related disorder
RS762765702 SULT2B1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Ichthyosis
RS762766720 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS762767186 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS762767233 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS762767384 DPF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762767720 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS762768377 COL6A3 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS762768517 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS762768883 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS762768981 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS762770081 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypoalphalipoproteinemia
RS762770801 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS762770988 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS762771153 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS762771228 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS762771340 KIAA0753 Health Risk Pathogenic Joubert syndrome, Jeune thoracic dystrophy
RS762771600 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762772317 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS762773076 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS762773298 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS762773515 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS762775035 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS762776652 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS762777113 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS762777153 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS762777463 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy
RS762778002 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS762778512 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS762779113 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS762779162 UBA5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 44
RS762779421 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS762779524 RSRC1 Health Risk Likely pathogenic —
RS762780039 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS762780413 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS762780994 CTSK Health Risk Pathogenic/Likely pathogenic Abnormality of the skeletal system, Pyknodysostosis
RS762781522 MTTP Health Risk Pathogenic —
RS762781855 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS762782183 BBS7 Health Risk Pathogenic Retinal dystrophy, Bardet-Biedl syndrome 7
RS762782636 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS762783424 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS762784419 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Inborn genetic diseases
RS762784420 MYH2 Health Risk Pathogenic Myopathy, proximal
RS762785189 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762786652 ARNT2 Health Risk Pathogenic —
RS762787323 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS762787810 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS762788344 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS762788551 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS762789388 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS762790508 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS762790577 IFT74 Health Risk Likely pathogenic —
RS762791891 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762791927 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS762792701 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS762792738 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
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