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
RS1085307407 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307408 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307409 ACVRL1 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1085307410 ACVRL1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS1085307411 ACVRL1 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1085307412 ACVRL1 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307413 ACVRL1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS1085307414 ACVRL1 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307415 ACVRL1 Health Risk Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia
RS1085307416 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1085307417 ACVRL1 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1085307418 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia
RS1085307419 ACVRL1 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1085307420 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307421 ACVRL1 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia
RS1085307422 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1085307423 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307424 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307425 ACVRL1 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307426 ACVRL1 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307427 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307428 ACVRL1 Health Risk Likely pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia
RS1085307429 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia
RS1085307430 ENG Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307431 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1085307432 ENG Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia
RS1085307433 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307434 ENG Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307435 ENG Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS1085307436 ENG Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307438 KCNK3 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307439 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1085307441 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1085307442 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1085307443 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1085307444 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1085307445 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1085307446 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Retinitis pigmentosa
RS1085307447 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS1085307449 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS1085307450 PLD1 Health Risk Pathogenic Cardiac valvular defect, developmental
RS1085307451 DHX30 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases
RS1085307452 DEPDC5 Health Risk Pathogenic —
RS1085307454 COL1A1 Health Risk Pathogenic —
RS1085307455 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1085307457 EFTUD2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1085307459 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1085307461 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1085307462 KDM5C Health Risk Pathogenic —
RS1085307463 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1085307465 STXBP1 Health Risk Pathogenic —
RS1085307466 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1085307468 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1085307470 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1085307471 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1085307472 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS1085307477 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1085307478 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1085307479 CALM1 Health Risk Pathogenic Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
RS1085307480 WAC Health Risk Pathogenic/Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, Intellectual disability
RS1085307481 SOX2 Health Risk Pathogenic —
RS1085307482 EBF3 Health Risk Pathogenic —
RS1085307484 SCN1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual disability
RS1085307486 TUBB Health Risk Likely pathogenic —
RS1085307490 FBN1 Health Risk Pathogenic —
RS1085307492 SDHAF1 Health Risk Likely pathogenic Mitochondrial complex 2 deficiency, nuclear type 2
RS1085307496 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS1085307497 COQ8A Health Risk Likely pathogenic —
RS1085307499 GJC2 Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Hypomyelinating leukodystrophy 2
RS1085307500 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1085307502 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1085307505 AMER1 Health Risk Likely pathogenic —
RS1085307506 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1085307508 FOXC1 Health Risk Likely pathogenic —
RS1085307511 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1085307512 POU3F4 Health Risk Pathogenic —
RS1085307513 SIX3 Health Risk Likely pathogenic —
RS1085307518 ARID1B Health Risk Pathogenic —
RS1085307520 SCN1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS1085307522 PHEX Health Risk Pathogenic —
RS1085307524 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1085307527 SCN5A Health Risk Likely pathogenic —
RS1085307528 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1085307529 CACNA1F Health Risk Likely pathogenic —
RS1085307531 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1085307534 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1085307535 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1085307537 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS1085307541 SCN2A Health Risk Likely pathogenic —
RS1085307542 SCN2A Health Risk Likely pathogenic —
RS1085307544 ANKRD11 Health Risk Pathogenic —
RS1085307547 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, Complex neurodevelopmental disorder
RS1085307550 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1085307553 RAF1 Health Risk Pathogenic RASopathy, RASopathy
RS1085307555 TWIST1 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1085307556 SMARCA4 Health Risk Pathogenic —
RS1085307560 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1085307562 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1085307563 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS1085307564 EP300 Health Risk Likely pathogenic —
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