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: rs63750741
rs63750741
MSH6 ; FBXO11
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 2 2004 2005
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 7 2004 2016
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2004 2016
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2005 2013