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: rs63750624
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 11 1994 2016
dbSNP: rs63750624
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2006 2017
dbSNP: rs63750624
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 7 2002 2014
dbSNP: rs63750624
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0