DisGeNET - a database of gene-disease associations

List of shared variants

Red Blood Cell Count measurement, C0014772

Disease: Serum total cholesterol measurement

Source: GWASCAT ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		61
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	35
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		24
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs174533	MYRF ; TMEM258	0.763	0.160	11	61781553	intron variant	G/A	snv	0.37	0.29	17
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	17
rs2519093	ABO	0.882	0.200	9	133266456	intron variant	T/C	snv			14
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs579459		0.752	0.320	9	133278724	upstream gene variant	C/T	snv		0.81	10
rs2070895	LIPC ; ALDH1A2	0.807	0.120	15	58431740	intron variant	G/A	snv		0.33	7
rs550057	ABO	0.925	0.080	9	133271182	intron variant	T/A;C	snv			7
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv		0.19	7
rs77303550	TXNL4B			16	72045758	intron variant	C/T	snv		0.19	6
rs1461729	LOC157273	1.000		8	9329732	intron variant	A/G	snv		0.88	3
rs17561950	PGS1			17	78396063	intron variant	G/A	snv		0.45	3