DisGeNET - a database of gene-disease associations

List of associated variants

Sjogren's Syndrome, C1527336

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
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs8192284	IL6R	0.724	0.720	1	154454494	missense variant	A/C;T	snv			19
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs2201841	C1orf141 ; IL23R	0.716	0.440	1	67228519	intron variant	A/G;T	snv			14
rs10774671	OAS1	0.732	0.480	12	112919388	splice acceptor variant	G/A;C	snv	0.67		14
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs116855232	NUDT15	0.742	0.400	13	48045719	missense variant	C/T	snv	2.8E-02	1.1E-02	12
rs11889341	STAT4	0.732	0.480	2	191079016	intron variant	C/T	snv		0.21	12
rs11209032		0.752	0.400	1	67274409	upstream gene variant	G/A	snv		0.30	10
rs117026326	LOC101926943 ; GTF2I	0.752	0.440	7	74711703	intron variant	C/T	snv		1.3E-02	10
rs1004819	C1orf141 ; IL23R	0.776	0.360	1	67204530	intron variant	G/A	snv		0.30	9
rs61756766	TNFRSF13C	0.776	0.320	22	41925447	missense variant	G/A	snv	5.7E-03	5.7E-03	9
rs10168266	STAT4	0.776	0.400	2	191071078	intron variant	C/T	snv		0.19	8
rs9277554	HLA-DPB1	0.790	0.520	6	33087761	3 prime UTR variant	C/T	snv		0.38	7
rs774359492	WDHD1	0.807	0.200	14	55008684	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs9271588		0.925	0.200	6	32623176	TF binding site variant	T/C	snv		0.43	6
rs11805303	C1orf141 ; IL23R	0.827	0.240	1	67209833	intron variant	C/T	snv		0.30	6
rs4282438	COL11A2P1	0.807	0.280	6	33104395	intron variant	T/G	snv		3.1E-02	6
rs3757387	IRF5	0.851	0.280	7	128936032	upstream gene variant	T/C	snv		0.38	6