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
RS2540124973 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540125931 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540127265 COL2A1 Health Risk Likely pathogenic —
RS2540129675 COL2A1 Health Risk Pathogenic —
RS2540129721 COL2A1 Health Risk Pathogenic/Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2540131856 COL2A1 Health Risk Pathogenic —
RS2540131993 COL2A1 Health Risk Pathogenic —
RS2540132104 COL2A1 Health Risk Pathogenic —
RS2540132208 COL2A1 Health Risk Pathogenic —
RS2540132223 COL2A1 Health Risk Pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2540132967 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2540133028 SDHAF2 Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 2, Pheochromocytoma/paraganglioma syndrome 2
RS2540133883 COL2A1 Health Risk Pathogenic —
RS2540133960 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2540134070 COL2A1 Health Risk Likely pathogenic —
RS2540134084 COL2A1 Health Risk Pathogenic —
RS2540134211 COL2A1 Health Risk Pathogenic —
RS2540134243 COL2A1 Health Risk Likely pathogenic —
RS2540134393 COL2A1 Health Risk Pathogenic —
RS2540134446 COL2A1 Health Risk Likely pathogenic —
RS2540135652 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540135688 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540135722 COL2A1 Health Risk Likely pathogenic —
RS2540135979 COL2A1 Health Risk Pathogenic —
RS2540136030 COL2A1 Health Risk Likely pathogenic —
RS2540136183 COL2A1 Health Risk Likely pathogenic —
RS2540136191 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2540136240 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2540138276 COL2A1 Health Risk Pathogenic —
RS2540138496 COL2A1 Health Risk Pathogenic —
RS2540139870 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540139953 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540141581 COL2A1 Health Risk Pathogenic —
RS2540141594 COL2A1 Health Risk Pathogenic Stickler syndrome, Stickler syndrome
RS2540141840 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2540143151 COL2A1 Health Risk Likely pathogenic —
RS2540143179 COL2A1 Health Risk Likely pathogenic —
RS2540143186 COL2A1 Health Risk Pathogenic —
RS2540143217 COL2A1 Health Risk Pathogenic —
RS2540143322 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540144358 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540144667 COL2A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540144774 COL2A1 Health Risk Likely pathogenic —
RS2540144824 COL2A1 Health Risk Pathogenic —
RS2540144871 COL2A1 Health Risk Likely pathogenic —
RS2540146311 COL2A1 Health Risk Pathogenic —
RS2540146769 COL2A1 Health Risk Pathogenic —
RS2540146864 COL2A1 Health Risk Pathogenic —
RS2540147368 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Type 2 collagenopathy
RS2540147394 LHX2 Health Risk Likely pathogenic Variable neurodevelopmental disorder, Variable neurodevelopmental disorder
RS2540147569 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540148055 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540148386 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540148810 COL2A1 Health Risk Likely pathogenic Stickler syndrome, type I
RS2540148817 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540148926 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540149005 COL2A1 Health Risk Pathogenic —
RS2540149264 COL2A1 Health Risk Pathogenic —
RS2540149322 COL2A1 Health Risk Likely pathogenic —
RS2540149361 COL2A1 Health Risk Pathogenic —
RS2540149390 COL2A1 Health Risk Pathogenic Stickler syndrome, type I
RS2540150838 COL2A1 Health Risk Pathogenic —
RS2540150852 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540150856 COL2A1 Health Risk Likely pathogenic —
RS2540150901 COL2A1 Health Risk Likely pathogenic —
RS2540150938 COL2A1 Health Risk Pathogenic —
RS2540151593 COL2A1 Health Risk Pathogenic —
RS2540151614 COL2A1 Health Risk Likely pathogenic —
RS2540151727 COL2A1 Health Risk Pathogenic/Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540151735 COL2A1 Health Risk Pathogenic —
RS2540151785 COL2A1 Health Risk Pathogenic —
RS2540151788 COL2A1 Health Risk Pathogenic/Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2540152086 COL2A1 Health Risk Pathogenic Kniest dysplasia, Kniest dysplasia
RS2540152190 COL2A1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS2540153237 COL2A1 Health Risk Likely pathogenic —
RS2540153326 COL2A1 Health Risk Pathogenic —
RS2540153331 COL2A1 Health Risk Pathogenic —
RS2540153474 COL2A1 Health Risk Pathogenic —
RS2540153512 COL2A1 Health Risk Pathogenic —
RS2540154732 SCN8A Health Risk Likely pathogenic —
RS2540154868 SCN8A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2540155977 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS2540157034 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540157150 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540157346 COL2A1 Health Risk Pathogenic —
RS2540157602 COL2A1 Health Risk Pathogenic —
RS2540158011 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158104 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158127 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158136 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158145 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540158250 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540158265 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540158303 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158384 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158393 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158399 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158414 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540158554 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540158607 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
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