DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: MTAP ×

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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
rs7023329	MTAP	0.790	0.160	9	21816529	intron variant	A/G	snv		0.50	8
rs10757257	MTAP	0.882	0.080	9	21806565	intron variant	G/A	snv		0.34	3
rs869330	MTAP	0.925	0.080	9	21804618	intron variant	A/G	snv		0.62	2
rs7023954	MTAP	0.925	0.040	9	21816759	missense variant	G/A	snv	0.40	0.42	1
rs869329	MTAP	0.851	0.080	9	21804694	intron variant	A/G;T	snv			1