DisGeNET - a database of gene-disease associations

List of shared variants

Colorectal cancer, hereditary nonpolyposis, type 1, C2936783

Disease: Hereditary Non-Polyposis Colon Cancer Type 2

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs63750193	MLH1	0.851	0.160	3	37040276	missense variant	T/C	snv			6
rs63750610	MLH1	0.851	0.240	3	37048563	missense variant	C/G;T	snv			6
rs63750781	MLH1	0.851	0.160	3	37004444	missense variant	C/G;T	snv	4.0E-06		6
rs267607901	MLH1	0.882	0.160	3	37050633	frameshift variant	AA/-;A;AAAA	delins			5
rs63750453	MLH1	0.882	0.160	3	37001051	missense variant	G/A	snv			5
rs63750648	EPM2AIP1 ; MLH1	0.882	0.160	3	36993602	missense variant	A/T	snv			4
rs63750706	MLH1 ; EPM2AIP1	0.882	0.160	3	36993609	missense variant	C/A;T	snv			4
rs267607706	EPM2AIP1 ; MLH1	0.882	0.160	3	36993661	missense variant	C/A;G;T	snv	4.0E-06		3
rs267607727	MLH1	0.925	0.160	3	37001049	splice donor variant	G/A;T	snv			3
rs63749990	MLH1	0.925	0.160	3	37000985	missense variant	T/G	snv			2