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
rs35045067	MLH1	0.925	0.160	3	37048557	missense variant	A/C;G	snv	4.4E-05		1
rs41295282	MLH1	1.000	0.160	3	37001024	missense variant	A/G	snv	1.6E-05	7.0E-05	1
rs41295284	MLH1	0.925	0.160	3	37047607	missense variant	T/A	snv	1.9E-04	1.5E-04	1
rs587778964	MLH1	0.882	0.160	3	37048604	missense variant	A/C;T	snv			1
rs63750511	MLH1	0.925	0.160	3	37040252	missense variant	A/C;T	snv			1
rs63750710	MLH1	0.925	0.160	3	37020411	missense variant	A/C	snv			1
rs63750781	MLH1	0.851	0.160	3	37004444	missense variant	C/G;T	snv	4.0E-06		1
rs63751094	MLH1	0.925	0.160	3	36996624	stop lost	A/G;T	snv			1
rs63751428	MLH1	0.882	0.160	3	36996686	stop gained	C/A;T	snv			1
rs63751608	MLH1	0.925	0.160	3	37042321	missense variant	T/C	snv			1
rs63751713	MLH1	0.925	0.160	3	37047531	missense variant	C/G;T	snv			1
rs587778883	MLH1	0.807	0.200	3	37025648	frameshift variant	A/-	del			6
rs28930073	MLH1	0.827	0.200	3	37007004	missense variant	G/C	snv	2.1E-04	1.9E-04	5
rs63750899	MLH1	0.851	0.200	3	37048562	missense variant	C/G;T	snv			4
rs63750206	MLH1	0.807	0.200	3	36996701	missense variant	G/A;C;T	snv			3
rs63750339	MLH1	0.925	0.200	3	37020441	frameshift variant	C/-	delins			3
rs63751310	MLH1	0.851	0.200	3	37048595	stop gained	C/T	snv			3
rs587778992	MLH1	0.882	0.200	3	37050606	stop gained	C/T	snv			2
rs63749820	MLH1	0.882	0.200	3	37007046	stop gained	C/T	snv			2
rs63751615	MLH1	0.851	0.200	3	37012098	stop gained	C/A;T	snv	4.0E-06		1
rs63750217	MLH1	0.807	0.240	3	37048955	missense variant	G/A;C	snv			4
rs63749795	MLH1	0.807	0.240	3	37028833	stop gained	C/T	snv			3
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28