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
RS2465713977 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465714459 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465714495 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465714809 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465715039 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465715355 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465715835 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465716377 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465716479 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465716750 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465717090 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465717848 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465718614 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465718716 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465720178 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465720858 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465721008 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
RS2465722826 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465730692 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465730931 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Cervical cancer
RS2465732793 PPP1CB Health Risk Likely pathogenic Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2
RS2465734586 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465734892 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Thyroid cancer
RS2465736021 PPP1CB Health Risk Pathogenic/Likely pathogenic Noonan syndrome, Noonan syndrome-like disorder with loose anagen hair 2
RS2465737193 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
RS2465737402 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465738712 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465738798 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 1
RS2465739060 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465739324 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2465740345 PKDCC Health Risk Likely pathogenic Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
RS2465740348 PKDCC Health Risk Pathogenic —
RS2465741354 PKDCC Health Risk Pathogenic —
RS2465741582 PKDCC Health Risk Pathogenic Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
RS2465744658 EFEMP1 Health Risk Pathogenic/Likely pathogenic EFEMP1-related disorder, EFEMP1-related disorder
RS2465745645 PPP1CB Health Risk Conflicting classifications of pathogenicity —
RS2465746449 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465746782 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465746847 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465747170 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2465747193 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465747218 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2465747267 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465747562 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2465747680 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465747778 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465748327 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465748688 MSH2 Health Risk Likely pathogenic —
RS2465748724 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465748789 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465748865 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465749226 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465749324 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465749701 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2465750309 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465750390 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2465750413 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465750676 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465751187 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465751342 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465751463 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2465751575 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465752339 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465752371 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465752475 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465752553 EFEMP1 Health Risk Pathogenic —
RS2465753103 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465753364 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465753416 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465753482 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465753635 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465753740 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465753864 PPP1CB Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2465754016 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465754320 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2465754557 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465755155 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465762836 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465762881 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2465763188 SPAST Health Risk Pathogenic —
RS2465769484 SPAST Health Risk Pathogenic —
RS2465780129 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465780280 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465780313 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465780424 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465781726 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2465781881 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465782008 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2465782137 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465782301 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2465783234 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465783381 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465783434 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465783746 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465783847 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465784029 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2465784826 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2465785275 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2465785510 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2465785557 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
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