DisGeNET - a database of gene-disease associations

List of shared variants

Reticulocyte count (procedure), C0206161

Disease: Systolic Pressure

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
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	35
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			11
rs2571445	TNS1	0.925	0.080	2	217818431	missense variant	A/G;T	snv	0.62		8
rs112875651				8	125494452	intron variant	G/A	snv		0.31	7
rs12454712	BCL2	0.925	0.120	18	63178651	intron variant	T/A;C	snv			7
rs13389219	COBLL1	1.000	0.080	2	164672366	intron variant	C/T	snv		0.47	5
rs10750766				11	65706327	regulatory region variant	C/A	snv		0.60	4
rs1694068	ARL15			5	53987800	intron variant	T/A	snv		0.62	4
rs7246865	MYO9B			19	17108295	intron variant	G/A	snv		0.36	4
rs588177	PLCB3			11	64256584	intron variant	C/A;T	snv	0.58		2
rs6712203	COBLL1			2	164700808	intron variant	C/T	snv	0.34	0.45	2