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
RS2518037603 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518037791 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518037803 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518038428 HPS4 Health Risk Pathogenic —
RS2518041104 PLA2G6 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS2518041187 SOX10 Health Risk Likely pathogenic —
RS2518041436 SOX10 Health Risk Pathogenic —
RS2518041600 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS2518041664 SOX10 Health Risk Pathogenic —
RS2518041799 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS2518042080 SOX10 Health Risk Pathogenic —
RS2518042216 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS2518042408 SOX10 Health Risk Pathogenic —
RS2518042506 SOX10 Health Risk Pathogenic —
RS2518042768 TNRC6B Health Risk Pathogenic —
RS2518045920 TNRC6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities
RS2518046138 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518046595 SOX10 Health Risk Pathogenic —
RS2518046732 SOX10 Health Risk Likely pathogenic SOX10-related disorder, SOX10-related disorder
RS2518046801 SOX10 Health Risk Likely pathogenic SOX10-related disorder, SOX10-related disorder
RS2518046893 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS2518046945 SOX10 Health Risk Pathogenic —
RS2518047030 SOX10 Health Risk Likely pathogenic SOX10-related disorder, SOX10-related disorder
RS2518047038 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518047257 CFAP410 Health Risk Pathogenic —
RS2518047556 CFAP410 Health Risk Pathogenic —
RS2518048062 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518048064 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518048199 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518048241 PI4KA Health Risk Likely pathogenic PI4KA-related disorder, PI4KA-related disorder
RS2518048258 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518048273 CFAP410 Health Risk Pathogenic —
RS2518048433 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518048441 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518050288 PCNT Health Risk Likely pathogenic —
RS2518050316 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518050443 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518050651 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518050680 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518050728 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518050771 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518051015 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518051292 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518051350 CFAP410 Health Risk Likely pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS2518051357 CHEK2 Health Risk Likely pathogenic —
RS2518051831 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052025 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052126 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052174 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052262 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052287 CFAP410 Health Risk Pathogenic —
RS2518052342 SOX10 Health Risk Pathogenic Deafness with anatomical inner ear anomalies, Deafness with anatomical inner ear anomalies
RS2518052358 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS2518052383 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS2518052385 SOX10 Health Risk Pathogenic —
RS2518052406 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052498 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052512 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052569 SOX10 Health Risk Likely pathogenic SOX10-related disorder, SOX10-related disorder
RS2518052644 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518052715 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2518052769 SOX10 Health Risk Pathogenic —
RS2518053002 SOX10 Health Risk Pathogenic —
RS2518053029 CFAP410 Health Risk Pathogenic —
RS2518053088 SOX10 Health Risk Likely pathogenic SOX10-related disorder, SOX10-related disorder
RS2518053695 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518053998 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518054173 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518054239 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518054435 CHEK2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2518054615 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518054728 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518054874 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518054941 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518055231 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518055647 PLA2G6 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS2518056118 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2518056465 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2518057651 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518057681 PCNT Health Risk Pathogenic —
RS2518057706 PCNT Health Risk Pathogenic —
RS2518057910 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518058247 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518058306 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518058362 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518058484 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2518058506 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518058552 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518058690 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518058743 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2518058829 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518059191 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518059416 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518059514 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518059961 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518059974 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518060056 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518060139 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2518060158 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518060168 HPS4 Health Risk Pathogenic —
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