Source: ALL

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: rs63750488
rs63750488
MSH2
0.925 0.160 2 47412483 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2003 2015
dbSNP: rs63750488
rs63750488
MSH2
0.925 0.160 2 47412483 stop gained C/G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 4 2003 2015
dbSNP: rs63750488
rs63750488
MSH2
0.925 0.160 2 47412483 stop gained C/G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2003 2013
dbSNP: rs63750488
rs63750488
MSH2
0.925 0.160 2 47412483 stop gained C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 0