DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of stomach ×

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	AF GENOME	Num. diseases
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs56250509	MLH1	0.790	0.160	3	37014530	missense variant	T/C	snv	2.0E-05		10
rs587778883	MLH1	0.807	0.200	3	37025648	frameshift variant	A/-	del			7
rs63750114	MLH1	0.827	0.160	3	37049015	stop gained	C/A;T	snv	4.9E-04		5
rs63749803	MLH1	1.000	0.080	3	37004421	missense variant	T/C;G	snv			1
rs63750297	MLH1	1.000	0.080	3	37004412	missense variant	C/A;G;T	snv	8.0E-06		1
rs63751047	MLH1	1.000	0.080	3	37048525	missense variant	C/A;G	snv			1