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: rs193922343
rs193922343
MSH6 ; FBXO11
0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 3 2008 2014
dbSNP: rs193922343
rs193922343
MSH6 ; FBXO11
0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 3 2008 2015
dbSNP: rs193922343
rs193922343
MSH6 ; FBXO11
0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2011 2014
dbSNP: rs193922343
rs193922343
MSH6 ; FBXO11
0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 1 2014 2014