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
RS183029344 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS183029507 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1830300099 VPS13A Health Risk Likely pathogenic —
RS1830302008 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830319943 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS1830345043 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1830345215 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830345505 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830348981 PAX5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1830374353 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830375228 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830375325 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830376644 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830377451 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830379007 TJP2 Health Risk Pathogenic/Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1830381101 TJP2 Health Risk Likely pathogenic —
RS1830383454 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830384063 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1830384447 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830384514 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830384577 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830384847 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830384910 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1830385077 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1830385549 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830385865 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830394955 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1830395639 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830397703 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830399696 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830401647 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1830422749 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1830423993 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1830425406 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830431391 LOC102723566;ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830431553 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830432509 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830432717 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830432773 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830432884 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830433526 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830434079 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830434129 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS183044693 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1830464621 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1830470553 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS183047238 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1830481830 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS183052163 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1830526581 ANK1;LOC124153154 Health Risk Likely pathogenic —
RS183052805 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type
RS1830528981 ANK1;LOC124153154 Health Risk Pathogenic —
RS183053579 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, CTRC-related disorder
RS183054243 TAPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1830547696 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1830549152 GABBR2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS183056142 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1830562930 RELN Health Risk Likely pathogenic —
RS1830566817 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830569401 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830569662 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830570208 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830579035 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830579577 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1830579764 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830580093 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830580247 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1830580547 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830580607 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830580925 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830581816 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1830584796 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1830592063 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1830595697 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830596596 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830597071 ZNF462 Health Risk Pathogenic ZNF462-related disorder, Weiss-Kruszka syndrome
RS1830597676 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1830599035 ZNF462 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1830599119 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1830599423 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830599875 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830601036 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830601919 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830602163 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1830603743 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS183060698 DOCK6 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Bone Paget disease
RS183060991 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1830613298 ABCA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS183061595 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS1830619461 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1830619692 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1830620247 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830620321 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830620832 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830620889 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1830624241 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830643251 NDUFAF6 Health Risk Likely pathogenic —
RS1830713927 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1830715603 VPS13A Health Risk Pathogenic —
RS1830715784 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
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