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: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 3 2010 2015
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2010 2018
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2010 2015
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 1.000 1 2015 2015
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.700 0
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs786201042
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2015 2015