DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: MLH1 ×

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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	Num. diseases
rs1057517541	MLH1	0.925	0.160	3	37025817	stop gained	C/T	snv		3
rs1057517543	MLH1	1.000	0.080	3	37000954	splice region variant	AAGAAGATCTGGA/-	delins		1
rs1057517617	MLH1	1.000	0.080	3	37026007	splice donor variant	GTATGG/-	delins		1
rs1060500687	MLH1			3	37047639	frameshift variant	AA/A;AAA;G	delins		1
rs1060500688	MLH1			3	37001014	frameshift variant	G/-	delins		1
rs1060500689	MLH1			3	37007000	stop gained	C/G;T	snv	4.0E-06	1
rs1060500692	MLH1			3	37025668	frameshift variant	GAGATGG/-	delins		1
rs1060500698	MLH1			3	37050639	frameshift variant	T/-	delins		1
rs1060500699	MLH1			3	37025702	frameshift variant	-/T	delins		2
rs1060500702	MLH1	1.000	0.160	3	37007050	missense variant	G/A;C	snv		1
rs1060500703	MLH1			3	37025639	frameshift variant	T/-	delins		1
rs1060500706	MLH1			3	37050517	frameshift variant	G/-	delins		1
rs1060500707	MLH1			3	37025644	stop gained	-/A	delins		1
rs1060504000	MLH1	0.925	0.160	3	37025666	missense variant	T/C	snv		2
rs1064793400	MLH1	1.000	0.040	3	37048550	missense variant	G/A	snv		1
rs1064794331	MLH1			3	37048557	frameshift variant	-/TGTGCCCC	delins		1
rs1064795341	EPM2AIP1 ; MLH1			3	36993553	frameshift variant	CGTGGCAGGGGTT/-	delins		1
rs1064795441	MLH1	1.000	0.080	3	37001028	frameshift variant	T/-	delins		2
rs1064795515	MLH1			3	37025998	frameshift variant	G/-	del		1
rs1064795693	MLH1			3	36996690	missense variant	A/G	snv		1
rs1064796057	MLH1			3	37011825	stop gained	C/G;T	snv		1
rs111052004	MLH1 ; EPM2AIP1	0.925	0.160	3	36993549	start lost	T/A;C;G	snv	4.0E-06; 4.0E-06	2
rs1114167435	MLH1	1.000	0.080	3	37025932	frameshift variant	AG/-	delins		1
rs11541859	MLH1	1.000	0.160	3	37001012	stop gained	G/T	snv		1
rs121912965	EPM2AIP1 ; MLH1	0.882	0.200	3	36993651	missense variant	TG/AC	mnv		3