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
RS1668974150 ABCG8 Health Risk Pathogenic Sitosterolemia 1, Sitosterolemia 1
RS1668978337 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1668981132 PBX1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1669035909 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1669056436 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669058948 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669059418 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669094977 CCDC88A Health Risk Pathogenic —
RS1669240720 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669245178 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669252923 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669281225 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1669287624 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669300332 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669301838 MSH6 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
RS1669305969 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669309735 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669310607 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1669321230 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669323917 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 5
RS1669325562 MSH6 Health Risk Likely pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1669331597 MSH6 Health Risk Pathogenic Mismatch repair cancer syndrome 1, Mismatch repair cancer syndrome 1
RS1669337684 DPYD Health Risk Pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1669337715 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1669339495 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669343512 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669344619 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669352196 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669354866 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669360293 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669363053 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669364351 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669365820 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch-like syndrome
RS1669372526 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669375976 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1669380698 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669381138 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS1669384406 MSH6 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1669391378 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS1669393906 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669395325 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669397095 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669399925 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669419321 PBX1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1669419578 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669420365 CFH Health Risk Pathogenic/Likely pathogenic Factor H deficiency, Age related macular degeneration 4
RS1669420541 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669421181 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1669432834 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1669440921 MSH6 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1669441162 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669445829 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669447063 MSH6 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1669451548 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669460814 MSH6 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS1669467176 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669467747 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669476049 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669478924 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669481204 MSH6 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS1669483230 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669485106 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669486855 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669487701 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669491241 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669491751 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669493890 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669498074 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 5
RS1669501514 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1669502158 MSH6 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
RS1669506824 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669507506 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1669524537 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669529094 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS1669532554 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669533825 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669539415 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1669552731 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1669558872 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669575714 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1669581856 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1669592664 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS1669613513 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1669632177 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1669636373 PBX1 Health Risk Likely pathogenic —
RS1669728918 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669729119 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669731638 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669747095 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch-like syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1669748364 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669760609 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669770252 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1669791515 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1669798610 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1669834540 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1669858309 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1669872142 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669874125 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1669881416 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1669882321 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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