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: rs267608064
rs267608064
0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2009 2016
dbSNP: rs267608064
rs267608064
0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 0
dbSNP: rs267608064
rs267608064
0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 0
dbSNP: rs267608064
rs267608064
0.925 0.160 2 47799614 frameshift variant AAAA/-;AA delins
Hereditary Nonpolyposis Colorectal Cancer
0.700 0