DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Disease: MSI-high

Source: BEFREE ×

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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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		484
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs777980327	APC	0.716	0.280	5	112837567	missense variant	A/T	snv	4.0E-06	7.0E-06	21
rs1060503115	PMS2	0.763	0.400	7	5978664	missense variant	T/A;G	snv			13
rs587778937	MLH1	0.882	0.160	3	37040291	missense variant	T/C;G	snv			4
rs63750575	MLH1	0.851	0.160	3	37047550	missense variant	T/C	snv			4
rs63751202	MLH1	0.851	0.160	3	37048578	missense variant	T/C;G	snv			4
rs869312801	PMS2	0.882	0.160	7	5987062	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		4