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: rs267608121
rs267608121
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 8 2003 2016
dbSNP: rs267608121
rs267608121
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 7 2003 2015
dbSNP: rs267608121
rs267608121
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 1.000 6 2003 2015
dbSNP: rs267608121
rs267608121
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 3 2003 2014