DisGeNET - a database of gene-disease associations

List of shared variants

Colorectal cancer, hereditary nonpolyposis, type 1, C2936783

Disease: Torre-Muir syndrome

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
rs63750875	MSH2	0.742	0.280	2	47475171	missense variant	G/A;C	snv	1.6E-05		15
rs63751108	MSH2	0.827	0.240	2	47429881	stop gained	C/T	snv			7
rs267607940	MSH2	0.851	0.240	2	47416430	splice donor variant	G/A;T	snv			6
rs63749849	MSH2	0.851	0.240	2	47429812	stop gained	C/T	snv			6
rs63750508	MSH2	0.851	0.240	2	47475126	stop gained	C/G;T	snv			6
rs63750610	MLH1	0.851	0.240	3	37048563	missense variant	C/G;T	snv			6
rs63750636	MSH2	0.851	0.240	2	47476492	stop gained	C/T	snv		7.0E-06	6
rs587779075	MSH2	0.882	0.200	2	47429830	stop gained	C/T	snv			5
rs587779190	MSH2	0.851	0.240	2	47414344	stop gained	G/C;T	snv	4.0E-06		5