DisGeNET - a database of gene-disease associations

List of associated variants

Systemic Scleroderma, C0036421

Source: GWASDB ×

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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
rs2233287	TNIP1	0.925	0.160	5	151060536	intron variant	G/A	snv		0.11	2
rs2239689	TNXB	0.925	0.120	6	32062507	intron variant	G/A	snv	0.33	0.25	2
rs4963128	PHRF1	0.882	0.120	11	589564	intron variant	T/C	snv		0.64	2
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	2
rs7601754	STAT4	0.882	0.160	2	191075725	intron variant	G/A;T	snv			2
rs10036748	TNIP1	0.752	0.360	5	151078585	intron variant	C/A;T	snv			1
rs10174238	STAT4	0.724	0.200	2	191108308	intron variant	G/A	snv		0.70	1
rs10220668	LINC01500	1.000	0.040	14	59042487	intron variant	A/G	snv		0.30	1
rs11047102	SOX5	0.925	0.160	12	23793212	intron variant	C/T	snv		7.9E-02	1
rs11191865	STN1	0.925	0.160	10	103913084	intron variant	G/A	snv		0.44	1
rs117026326	LOC101926943 ; GTF2I	0.752	0.440	7	74711703	intron variant	C/T	snv		1.3E-02	1
rs11724804	DGKQ	0.882	0.160	4	971991	intron variant	G/A	snv		0.43	1
rs11889341	STAT4	0.732	0.480	2	191079016	intron variant	C/T	snv		0.21	1
rs12711490		0.925	0.080	16	85939422	intron variant	T/C	snv		0.18	1
rs12722495	IL2RA	0.851	0.200	10	6055320	intron variant	T/C	snv		7.0E-02	1
rs13238352	TNPO3	0.827	0.240	7	129007888	intron variant	C/T	snv		9.1E-02	1
rs1372072	PLCL2	0.851	0.200	3	16913767	intron variant	G/A	snv		0.35	1
rs1535001	ANKS1A	0.925	0.080	6	34959503	intron variant	A/G	snv		0.47	1
rs17266594	BANK1	0.807	0.280	4	101829765	intron variant	T/C	snv	0.25	0.27	1
rs2176082	PXK	0.925	0.080	3	58345459	intron variant	G/A	snv		0.36	1
rs2275247	KIAA0319L	0.925	0.080	1	35442850	intron variant	T/C	snv		0.26	1
rs2359661	ITGAM	1.000	0.040	16	31269826	intron variant	A/G	snv		0.48	1
rs2409781	BLK	0.925	0.120	8	11502048	intron variant	T/A;C	snv			1
rs3790566	IL12RB2	1.000	0.040	1	67348757	intron variant	T/C	snv		0.61	1
rs3792783	TNIP1	0.882	0.280	5	151076171	intron variant	A/G	snv		0.25	1