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
RS2145838034 JPH2 Health Risk Pathogenic Cardiomyopathy, dilated
RS2145838146 SON Health Risk Pathogenic —
RS2145838229 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2145838966 SON Health Risk Pathogenic/Likely pathogenic See cases, ZTTK syndrome
RS2145839048 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations
RS2145841361 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145841388 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145841647 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145842116 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145842712 SLC7A9 Health Risk Likely pathogenic —
RS2145842905 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145843020 TRIOBP Health Risk Likely pathogenic See cases, See cases
RS2145843027 SLC7A9 Health Risk Pathogenic —
RS2145843523 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145843996 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145844027 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145845243 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145845399 RYR1 Health Risk Likely pathogenic —
RS2145846311 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2145846572 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145847207 SLC7A9 Health Risk Pathogenic —
RS2145847760 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145848353 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145849372 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145849937 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145850255 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145852357 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145853178 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145855461 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145862874 ERBB2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2145863122 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145863423 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145864140 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145865744 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145869510 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145870526 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145871872 TRIOBP Health Risk Pathogenic —
RS2145874187 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS2145874989 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS2145875208 RUNX1 Health Risk Likely pathogenic Acute myeloid leukemia, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145876249 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145876252 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145876703 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145877300 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145878129 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2145878627 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145879286 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2145880933 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2145882160 TRIOBP Health Risk Likely pathogenic —
RS2145888340 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145889339 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2145890527 COL18A1 Health Risk Pathogenic —
RS2145890906 COL18A1 Health Risk Pathogenic —
RS2145891005 COL18A1 Health Risk Pathogenic —
RS2145891378 COL18A1 Health Risk Likely pathogenic —
RS2145893296 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2145895177 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Abnormality of the musculature
RS2145895408 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2145896622 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145896801 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS2145897697 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS2145899336 DONSON Health Risk Pathogenic —
RS2145900469 COMP Health Risk Pathogenic —
RS2145900493 COMP Health Risk Likely pathogenic —
RS2145900494 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145900497 COMP Health Risk Pathogenic —
RS2145900523 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia type 1
RS2145900782 COMP Health Risk Likely pathogenic —
RS2145900800 COMP Health Risk Likely pathogenic —
RS2145900849 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145900853 COMP Health Risk Conflicting classifications of pathogenicity —
RS2145900868 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145900873 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS2145900881 COMP Health Risk Pathogenic —
RS2145900906 COMP Health Risk Likely pathogenic —
RS2145900919 COMP Health Risk Pathogenic/Likely pathogenic COMP-related disorder, COMP-related disorder
RS2145900926 COMP Health Risk Likely pathogenic —
RS2145901025 COMP Health Risk Likely pathogenic —
RS2145901034 COMP Health Risk Pathogenic/Likely pathogenic —
RS2145901035 COMP Health Risk Likely pathogenic —
RS2145901300 COMP Health Risk Conflicting classifications of pathogenicity —
RS2145901302 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS2145901343 COMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2145901346 COMP Health Risk Likely pathogenic —
RS2145901379 COMP Health Risk Likely pathogenic —
RS2145902131 COMP Health Risk Pathogenic COMP-related disorder, COMP-related disorder
RS2145902138 COMP Health Risk Likely pathogenic —
RS2145902154 COMP Health Risk Likely pathogenic —
RS2145902164 COMP Health Risk Likely pathogenic —
RS2145902239 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145902248 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145902259 COMP Health Risk Likely pathogenic —
RS2145902336 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145902345 COMP Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 1, COMP-related disorder
RS2145902395 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145903160 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS2145903203 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145903238 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145903243 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2145903266 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
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