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: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 33 1997 2017
dbSNP: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 19 1997 2015
dbSNP: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 16 1997 2017
dbSNP: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 1.000 2 1999 2008
dbSNP: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.700 0