DisGeNET - a database of gene-disease associations

List of associated variants

Systolic Pressure, C0871470

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
rs66803065	SBF2			11	10004305	intron variant	C/A;T	snv		0.19	2
rs7158754	EVL			14	100117012	intron variant	A/G	snv		0.81	1
rs67885470	CNTN5			11	100127699	intron variant	C/T	snv		0.18	1
rs603424	PKD2L1	1.000	0.080	10	100315722	intron variant	G/A	snv		0.34	10
rs1535464	SLC25A47			14	100327094	intron variant	G/A	snv		0.18	2
rs26030	FAM174A			5	100542328	intron variant	T/C	snv		0.61	1
rs35571646				11	100662632	upstream gene variant	-/CTAT	ins		0.34	1
rs1693567	LOC105375672 ; SNX31			8	100665158	upstream gene variant	T/C	snv		0.61	1
rs670401	ARHGAP42			11	100701679	intron variant	A/G	snv		0.76	3
rs6590811	ARHGAP42			11	100708153	intron variant	C/T	snv		0.53	4
rs59228823				14	100718850	regulatory region variant	G/C	snv		0.29	1
rs633185	ARHGAP42	0.925	0.080	11	100722807	intron variant	G/A;C	snv			8
rs6590816	ARHGAP42			11	100730902	intron variant	G/A	snv		0.40	4
rs604723	ARHGAP42	1.000	0.040	11	100739815	intron variant	T/C	snv		0.78	8
rs486023	ARHGAP42			11	100772406	intron variant	G/A	snv		0.25	2
rs10883543	PAX2			10	100792995	intron variant	G/T	snv		0.91	1
rs4551692	PAX2			10	100796696	intron variant	G/A	snv		0.91	2
rs112184198				10	100844757	intergenic variant	G/A	snv		9.3E-02	1
rs10895025	ARHGAP42			11	100877772	intron variant	T/C	snv		0.63	1
rs10883617	BTRC			10	101353278	upstream gene variant	T/C	snv		0.28	1
rs17248480	BANK1			4	101514108	intron variant	G/A	snv		1.8E-02	2
rs142449193	NCALD			8	101738369	intron variant	C/T	snv		6.9E-02	1
rs3218248	LOC105378458 ; LOC105378457			10	101768487	downstream gene variant	G/A	snv		1.4E-02	1
rs10409243	S1PR2 ; DNMT1			19	10222312	3 prime UTR variant	C/A;G;T	snv			6
rs2116942	S1PR2 ; DNMT1			19	10223987	missense variant	T/A;G	snv	3.5E-04; 0.54		1