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: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 12 2002 2018
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 5 2002 2014
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Colorectal cancer, hereditary nonpolyposis, type 1
0.700 1.000 4 2004 2010
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2002 2014
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 0
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 0
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.700 0