DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Primary malignant neoplasm ×

Variants associated to the Gene: MUTYH ×

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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
rs3219489	MUTYH	0.672	0.360	1	45331833	missense variant	C/A;G	snv	0.29	0.27	24
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	24
rs529008617	MUTYH	0.851	0.160	1	45331529	missense variant	G/A	snv	7.2E-05	2.8E-05	3
rs587780749	MUTYH	0.925	0.160	1	45332443	missense variant	C/A;T	snv	5.6E-05; 8.0E-06		3
rs754155145	MUTYH	0.925	0.120	1	45332773	missense variant	C/A;T	snv	4.0E-06		3
rs763693540	MUTYH	1.000	0.080	1	45333573	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		3
rs863224501	MUTYH	0.925	0.160	1	45331519	frameshift variant	TCACGGACGGG/-	delins		2.1E-05	3