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
RS2136571455 COL2A1 Health Risk Pathogenic/Likely pathogenic Platyspondylic dysplasia, Torrance type
RS2136571464 COL2A1 Health Risk Pathogenic —
RS2136571484 COL2A1 Health Risk Pathogenic/Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2136571492 COL2A1 Health Risk Pathogenic —
RS2136571551 COL2A1 Health Risk Pathogenic Kniest dysplasia, Kniest dysplasia
RS2136571594 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2136572656 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136573333 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2136573942 COL2A1 Health Risk Pathogenic —
RS2136573975 COL2A1 Health Risk Pathogenic —
RS2136574120 COL2A1 Health Risk Pathogenic —
RS2136574184 COL2A1 Health Risk Pathogenic —
RS2136574259 COL2A1 Health Risk Pathogenic —
RS2136575516 COL2A1 Health Risk Pathogenic —
RS2136575582 COL2A1 Health Risk Pathogenic —
RS2136575653 COL2A1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS2136575705 COL2A1 Health Risk Pathogenic —
RS2136575877 COL2A1 Health Risk Likely pathogenic —
RS2136576211 COL2A1 Health Risk Pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2136576254 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2136577028 COL2A1 Health Risk Pathogenic —
RS2136577094 COL2A1 Health Risk Likely pathogenic Kniest dysplasia, Kniest dysplasia
RS2136577123 COL2A1 Health Risk Pathogenic —
RS2136577158 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2136577175 COL2A1 Health Risk Pathogenic —
RS2136577259 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136579057 COL2A1 Health Risk Pathogenic —
RS2136579085 COL2A1 Health Risk Likely pathogenic —
RS2136579152 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136579397 COL2A1 Health Risk Likely pathogenic —
RS2136579443 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS2136579628 COL2A1 Health Risk Likely pathogenic —
RS2136582679 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS2136584562 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2136587563 COL2A1 Health Risk Pathogenic —
RS2136587619 COL2A1 Health Risk Pathogenic —
RS2136587632 COL2A1 Health Risk Likely pathogenic Stickler syndrome, type I
RS2136587657 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS2136587685 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS2136590070 COL2A1 Health Risk Pathogenic Kniest dysplasia, Kniest dysplasia
RS2136590109 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136590361 COL2A1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS2136590384 COL2A1 Health Risk Pathogenic —
RS2136590405 COL2A1 Health Risk Likely pathogenic Stickler syndrome, type I
RS2136590607 COL2A1 Health Risk Pathogenic —
RS2136595276 ETV6 Health Risk Pathogenic —
RS2136596089 ETV6 Health Risk Likely pathogenic ETV6-related disorder, ETV6-related disorder
RS2136596563 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS2136602093 ETV6 Health Risk Pathogenic —
RS2136602130 ETV6 Health Risk Pathogenic —
RS2136602321 ETV6 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 5, Inborn genetic diseases
RS2136604599 COL2A1 Health Risk Pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS2136604676 COL2A1 Health Risk Likely pathogenic —
RS2136604691 COL2A1 Health Risk Likely pathogenic —
RS2136604776 COL2A1 Health Risk Pathogenic —
RS2136604937 COL2A1 Health Risk Likely pathogenic —
RS2136605023 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136605039 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome type 1
RS2136605096 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS2136607401 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2136607614 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2136607793 COL2A1 Health Risk Likely pathogenic —
RS2136607887 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2136608011 COL2A1 Health Risk Likely pathogenic —
RS2136608035 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4
RS2136609285 COL2A1 Health Risk Pathogenic Kniest dysplasia, Kniest dysplasia
RS2136609413 COL2A1 Health Risk Pathogenic —
RS2136610457 COL2A1 Health Risk Pathogenic —
RS2136610618 COL2A1 Health Risk Likely pathogenic —
RS2136610684 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS2136610697 COL2A1 Health Risk Likely pathogenic —
RS2136611559 ATM Health Risk Likely pathogenic Abnormal central motor function, Ataxia-telangiectasia syndrome
RS2136612635 COL2A1 Health Risk Pathogenic —
RS2136612683 COL2A1 Health Risk Likely pathogenic —
RS2136612771 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136613666 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136614884 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136615248 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136616143 COL2A1 Health Risk Likely pathogenic —
RS2136616311 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136616399 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2136616554 COL2A1 Health Risk Pathogenic —
RS2136618158 COL2A1 Health Risk Likely pathogenic —
RS2136618285 COL2A1 Health Risk Likely pathogenic —
RS2136618395 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136618963 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136618972 COL2A1 Health Risk Pathogenic —
RS2136619125 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS2136619163 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136619174 COL2A1 Health Risk Likely pathogenic —
RS2136621947 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2136622208 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2136622365 COL2A1 Health Risk Likely pathogenic —
RS2136625913 COL2A1 Health Risk Pathogenic —
RS2136625993 COL2A1 Health Risk Pathogenic —
RS2136626176 COL2A1 Health Risk Pathogenic —
RS2136626297 COL2A1 Health Risk Pathogenic —
RS2136626415 COL2A1 Health Risk Conflicting classifications of pathogenicity Type 2 collagenopathy, Type 2 collagenopathy
RS2136626600 COL2A1 Health Risk Likely pathogenic —
RS2136626631 COL2A1 Health Risk Likely pathogenic —
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