DisGeNET - a database of gene-disease associations

List of shared variants

Platelet Count measurement, C0032181

Disease: High density lipoprotein measurement

Source: ALL

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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		92
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs174548	FADS2 ; FADS1	0.851	0.160	11	61803876	5 prime UTR variant	C/G;T	snv			17
rs17145750	MLXIPL	0.925	0.120	7	73612048	intron variant	C/A;T	snv			9
rs459193	C5orf67	0.925	0.120	5	56510924	downstream gene variant	A/G	snv		0.69	9
rs10761731	JMJD1C			10	63267850	intron variant	A/T	snv		0.38	6
rs2068888				10	93079885	downstream gene variant	G/A	snv		0.42	5
rs3809114	INHBE	0.925	0.120	12	57454856	5 prime UTR variant	G/A	snv		0.44	4
rs55707100	MAP1A			15	43528519	missense variant	C/T	snv	2.2E-02	2.0E-02	3