Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs888691362
rs888691362
0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.700 0
dbSNP: rs888691362
rs888691362
0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0