DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: DEF8 ×

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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
rs4785751	DEF8	1.000	0.040	16	89963009	intron variant	G/A	snv		0.37	1
rs7195043	DEF8	1.000	0.040	16	89954453	intron variant	C/T	snv		0.58	1
rs8051733	DEF8	1.000	0.040	16	89957798	intron variant	A/G	snv		0.30	1