DisGeNET - a database of gene-disease associations

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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
rs63750217	MLH1	0.807	0.240	3	37048955	missense variant	G/A;C	snv			10
rs63749795	MLH1	0.807	0.240	3	37028833	stop gained	C/T	snv			8
rs63751108	MSH2	0.827	0.240	2	47429881	stop gained	C/T	snv			7
rs267607720	MLH1	0.851	0.240	3	37000952	splice region variant	C/G;T	snv			6
rs267607768	MLH1	0.851	0.240	3	37011867	splice region variant	G/A;C	snv			6
rs267607871	MLH1	0.851	0.240	3	37048515	splice acceptor variant	A/G	snv	4.0E-06		6
rs63750540	MLH1	0.851	0.240	3	37025979	stop gained	A/T	snv			6
rs63750610	MLH1	0.851	0.240	3	37048563	missense variant	C/G;T	snv			6
rs63751275	MLH1	0.851	0.240	3	37048973	missense variant	C/A;G;T	snv	1.2E-05; 2.0E-05		6
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
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
rs1553647894	MLH1	0.882	0.200	3	37020309	splice acceptor variant	G/A;C	snv			4
rs267607735	MLH1	0.851	0.240	3	37001058	splice region variant	G/A	snv			4
rs63750047	MSH2	0.925	0.200	2	47475066	stop gained	C/T	snv			4
rs1553350126	MSH2	0.925	0.200	2	47408456	frameshift variant	-/AAGATCTTCTTCTGGTTCGTCA	delins			2