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: rs63751017
rs63751017
MSH6 ; FBXO11
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2003 2017
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 12 2003 2017
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 5 2003 2013
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 2 2012 2015
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 0
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0