DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Hair Color ×

Variants associated to the Gene: FANCA ×

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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
rs12931267	FANCA	1.000	0.040	16	89752324	intron variant	C/G	snv		4.7E-02	3
rs1800347	FANCA			16	89748641	intron variant	T/C	snv	2.6E-02	2.8E-02	1