DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Platelet Count measurement ×

Variants associated to the Gene: BAK1 ×

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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
rs210143	GGNBP1 ; BAK1	0.827	0.160	6	33579153	intron variant	T/C	snv		0.74	5
rs210142	GGNBP1 ; BAK1	0.925	0.120	6	33579060	intron variant	T/C	snv		0.74	3
rs210134	BAK1 ; GGNBP1	1.000	0.120	6	33572432	intron variant	A/G	snv		0.72	1
rs210135	BAK1 ; GGNBP1			6	33572915	3 prime UTR variant	T/A;C;G	snv			1
rs513349	GGNBP1 ; BAK1	1.000	0.120	6	33573942	intron variant	A/G	snv	0.51	0.51	1
rs5745568	GGNBP1 ; BAK1	0.882	0.080	6	33580617	intron variant	G/T	snv		0.19	1
rs9296095	GGNBP1 ; BAK1			6	33574746	intron variant	T/C	snv		0.25	1