DisGeNET - a database of gene-disease associations

List of associated variants

Primary Sjögren's syndrome, C0151449

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
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
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs2839698	MRPL23 ; MIR675 ; H19	0.662	0.520	11	1997623	non coding transcript exon variant	G/A	snv	0.41		25
rs2736340		0.683	0.480	8	11486464	upstream gene variant	C/T	snv		0.25	22
rs8177374	TIRAP	0.672	0.520	11	126292948	missense variant	C/T	snv	0.12	0.11	22
rs6822844		0.689	0.520	4	122588266	regulatory region variant	G/T	snv		0.10	20
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs7708392	TNIP1	0.732	0.400	5	151077924	intron variant	G/C	snv		0.44	13
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs10516487	BANK1	0.752	0.360	4	101829919	missense variant	G/A;T	snv	0.26; 8.0E-06		11
rs117026326	LOC101926943 ; GTF2I	0.752	0.440	7	74711703	intron variant	C/T	snv		1.3E-02	10
rs7582694	STAT4	0.763	0.400	2	191105394	intron variant	C/G	snv		0.77	9
rs2205960	TNFSF4	0.763	0.400	1	173222336	intergenic variant	G/A;T	snv			9
rs4917014		0.807	0.360	7	50266267	upstream gene variant	T/G	snv		0.26	8
rs12583006	TNFSF13B	0.807	0.320	13	108285104	intron variant	T/A	snv		0.21	8
rs17266594	BANK1	0.807	0.280	4	101829765	intron variant	T/C	snv	0.25	0.27	7
rs2254546		0.807	0.400	8	11486171	upstream gene variant	A/G	snv		0.83	6
rs4917129		0.807	0.240	7	50283578	intergenic variant	T/C	snv		0.51	6