DisGeNET - a database of gene-disease associations

List of shared variants

Body Height, C0005890

Disease: Low density lipoprotein 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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	35
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	20
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		17
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	9
rs13108218	HGFAC			4	3442204	intron variant	A/G;T	snv			7
rs1129555	GPAM			10	112150963	3 prime UTR variant	A/G	snv		0.71	5
rs114165349	LOC101928728 ; ARID1A			1	26695422	intron variant	G/C	snv		1.7E-02	5
rs2247056	LOC112267902 ; HLA-B ; LINC02571	0.882	0.160	6	31297713	intron variant	T/C	snv		0.80	4
rs4870941				8	125486586	intron variant	G/C	snv		0.20	4
rs6818397	RGS12			4	3433158	intron variant	T/A;G	snv			3
rs11783655	PLEC			8	143963405	intron variant	T/A	snv		0.30	2