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
RS2540168609 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2540168616 COL2A1 Health Risk Likely pathogenic —
RS2540169004 COL2A1 Health Risk Likely pathogenic Kniest dysplasia, Stickler syndrome type 1
RS2540169027 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540169048 COL2A1 Health Risk Likely pathogenic —
RS2540169164 COL2A1 Health Risk Likely pathogenic —
RS2540169171 COL2A1 Health Risk Pathogenic —
RS2540170430 COL2A1 Health Risk Pathogenic —
RS2540170618 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540170621 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540170652 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540170764 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540170766 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540170879 ACVRL1 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540170898 ACVRL1 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540170917 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540170936 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540172615 COL2A1 Health Risk Pathogenic —
RS2540172670 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540172722 SCN8A Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2540172754 COL2A1 Health Risk Pathogenic —
RS2540172793 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540172917 SCN8A Health Risk Pathogenic —
RS2540172993 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540174456 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540174463 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540174470 COL2A1 Health Risk Likely pathogenic —
RS2540174495 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS2540174508 COL2A1 Health Risk Likely pathogenic Type 2 collagenopathy, Type 2 collagenopathy
RS2540174515 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540174549 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540174605 COL2A1 Health Risk Pathogenic —
RS2540174635 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome type 1
RS2540174647 COL2A1 Health Risk Pathogenic —
RS2540174681 COL2A1 Health Risk Pathogenic —
RS2540174684 ACVRL1 Health Risk Likely pathogenic ACVRL1-related disorder, ACVRL1-related disorder
RS2540174697 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540174718 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540175271 COL2A1 Health Risk Likely pathogenic —
RS2540175331 COL2A1 Health Risk Likely pathogenic Platyspondylic dysplasia, Torrance type
RS2540175371 COL2A1 Health Risk Likely pathogenic —
RS2540175512 COL2A1 Health Risk Likely pathogenic —
RS2540175543 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Spondyloepiphyseal dysplasia congenita
RS2540176622 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540177679 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540177721 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS2540177848 COL2A1 Health Risk Pathogenic —
RS2540179907 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2540179988 COL2A1 Health Risk Pathogenic —
RS2540180043 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540180528 COL2A1 Health Risk Pathogenic —
RS2540180615 COL2A1 Health Risk Pathogenic —
RS2540180667 COL2A1 Health Risk Likely pathogenic —
RS2540181315 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540181410 COL2A1 Health Risk Pathogenic —
RS2540181466 COL2A1 Health Risk Pathogenic —
RS2540181480 COL2A1 Health Risk Pathogenic —
RS2540181556 COL2A1 Health Risk Pathogenic —
RS2540182079 COL2A1 Health Risk Pathogenic —
RS2540182212 COL2A1 Health Risk Pathogenic —
RS2540182221 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540182543 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540182684 COL2A1 Health Risk Likely pathogenic —
RS2540182818 COL2A1 Health Risk Pathogenic —
RS2540182834 COL2A1 Health Risk Likely pathogenic —
RS2540182840 COL2A1 Health Risk Likely pathogenic —
RS2540183519 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS2540183536 COL2A1 Health Risk Pathogenic —
RS2540183604 COL2A1 Health Risk Pathogenic —
RS2540183621 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540184329 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2540184376 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540185916 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540186185 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2540187271 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2540187424 COL2A1 Health Risk Pathogenic —
RS2540187489 COL2A1 Health Risk Pathogenic —
RS2540187525 COL2A1 Health Risk Pathogenic —
RS2540187694 COL2A1 Health Risk Pathogenic —
RS2540187705 COL2A1 Health Risk Pathogenic —
RS2540187828 COL2A1 Health Risk Pathogenic —
RS2540187904 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2540187950 COL2A1 Health Risk Likely pathogenic —
RS2540194058 COL2A1 Health Risk Pathogenic —
RS2540194271 COL2A1 Health Risk Pathogenic —
RS2540221503 PCDH15 Health Risk Pathogenic —
RS2540221717 PCDH15 Health Risk Pathogenic —
RS2540221793 PCDH15 Health Risk Pathogenic —
RS2540231164 TRAPPC9 Health Risk Likely pathogenic TRAPPC9-related disorder, TRAPPC9-related disorder
RS2540234162 PYROXD1 Health Risk Pathogenic —
RS2540239327 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540240013 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS2540242461 OPLAH Health Risk Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS2540244241 APOA5;ZPR1 Health Risk Likely pathogenic Hypertriglyceridemia 1, Hypertriglyceridemia 1
RS2540244684 HK1 Health Risk Likely pathogenic —
RS2540246645 APOA5 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540247952 OPLAH Health Risk Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS2540248611 PYROXD1 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2540251593 AICDA Health Risk Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS2540254262 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
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