DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Mean Corpuscular Volume (result) ×

Variants associated to the Gene: HBS1L ×

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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
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	6
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv		0.24	3
rs12664956	HBS1L			6	135063050	intron variant	T/C	snv		0.31	2
rs2210366	HBS1L			6	135094070	intron variant	G/A	snv		0.34	2
rs6904897	HBS1L			6	135061842	intron variant	T/G	snv		0.34	2
rs1547247	HBS1L			6	135069698	intron variant	G/A	snv		0.22	1