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
RS2136500272 GRK2 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2136500386 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136501226 GRK2 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2136502090 COL2A1 Health Risk Pathogenic —
RS2136502573 COL2A1 Health Risk Likely pathogenic —
RS2136502670 COL2A1 Health Risk Pathogenic —
RS2136504658 COL2A1 Health Risk Pathogenic —
RS2136504667 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Connective tissue disorder
RS2136504675 COL2A1 Health Risk Pathogenic —
RS2136504769 COL2A1 Health Risk Pathogenic —
RS2136504839 GRK2 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2136504848 COL2A1 Health Risk Pathogenic —
RS2136504869 COL2A1 Health Risk Pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS2136505279 COL2A1 Health Risk Likely pathogenic —
RS2136505595 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136505738 COL2A1 Health Risk Pathogenic —
RS2136505985 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136506414 COL2A1 Health Risk Pathogenic —
RS2136506437 COL2A1 Health Risk Likely pathogenic —
RS2136507956 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136508009 COL2A1 Health Risk Pathogenic —
RS2136508191 COL2A1 Health Risk Pathogenic —
RS2136508368 COL2A1 Health Risk Pathogenic —
RS2136508488 COL2A1 Health Risk Pathogenic —
RS2136508504 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136508586 COL2A1 Health Risk Pathogenic —
RS2136508595 COL2A1 Health Risk Pathogenic —
RS2136508895 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136508909 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS2136508934 COL2A1 Health Risk Pathogenic —
RS2136508967 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS2136509616 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2136509843 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2136510769 COL2A1 Health Risk Pathogenic Stickler syndrome, Stickler syndrome
RS2136510866 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2136510961 COL2A1 Health Risk Pathogenic —
RS2136511168 COL2A1 Health Risk Pathogenic —
RS2136511304 COL2A1 Health Risk Pathogenic —
RS2136511549 COL2A1 Health Risk Likely pathogenic Stickler syndrome, type I
RS2136511934 COL2A1 Health Risk Pathogenic —
RS2136511970 COL2A1 Health Risk Pathogenic —
RS2136512310 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2136512373 COL2A1 Health Risk Pathogenic —
RS2136512470 COL2A1 Health Risk Likely pathogenic —
RS2136512528 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2136512643 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome, Stickler syndrome
RS2136513040 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2136513148 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2136513432 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2136513466 SUOX Health Risk Likely pathogenic —
RS2136514291 COL2A1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS2136514301 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2136514418 COL2A1 Health Risk Pathogenic —
RS2136514646 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS2136514651 COL2A1 Health Risk Likely pathogenic —
RS2136515432 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2136516744 COL2A1 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloperipheral dysplasia
RS2136516779 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS2136516920 COL2A1 Health Risk Pathogenic —
RS2136516927 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136516942 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136518157 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2136518300 COL2A1 Health Risk Likely pathogenic —
RS2136518319 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136518773 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136518839 COL2A1 Health Risk Pathogenic —
RS2136518845 COL2A1 Health Risk Likely pathogenic —
RS2136519174 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136519577 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136519756 COL2A1 Health Risk Likely pathogenic —
RS2136519792 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2136520078 COL2A1 Health Risk Pathogenic —
RS2136520087 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136520141 COL2A1 Health Risk Likely pathogenic —
RS2136520333 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136521006 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136521036 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2136521056 COL2A1 Health Risk Likely pathogenic —
RS2136521131 COL2A1 Health Risk Likely pathogenic —
RS2136521308 COL2A1 Health Risk Pathogenic —
RS2136521329 COL2A1 Health Risk Pathogenic —
RS2136521461 COL2A1 Health Risk Pathogenic —
RS2136521542 COL2A1 Health Risk Likely pathogenic —
RS2136521786 COL2A1 Health Risk Likely pathogenic —
RS2136522117 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136522662 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136522667 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2136522699 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136522827 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2136522924 COL2A1 Health Risk Likely pathogenic —
RS2136522933 COL2A1 Health Risk Pathogenic —
RS2136522956 COL2A1 Health Risk Pathogenic —
RS2136522964 COL2A1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS2136523042 COL2A1 Health Risk Likely pathogenic —
RS2136524986 COL2A1 Health Risk Pathogenic —
RS2136525034 COL2A1 Health Risk Pathogenic —
RS2136525064 COL2A1 Health Risk Pathogenic —
RS2136525107 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2136525140 ATM Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2136525233 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
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