Source: CURATED

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: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 2 2001 2015
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0