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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs201802880	NCF1	0.882	0.200	7	74779296	missense variant	G/A	snv	1.1E-03		4
rs13447	NCF1C	0.882	0.200	7	75166663	non coding transcript exon variant	T/A;C	snv	1.9E-02		4
rs11575837	NCR3	1.000	0.200	6	31592893	5 prime UTR variant	C/T	snv		2.4E-02	2
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs7582694	STAT4	0.763	0.400	2	191105394	intron variant	C/G	snv		0.77	9
rs8177374	TIRAP	0.672	0.520	11	126292948	missense variant	C/T	snv	0.12	0.11	22
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs12583006	TNFSF13B	0.807	0.320	13	108285104	intron variant	T/A	snv		0.21	8
rs2205960	TNFSF4	0.763	0.400	1	173222336	intergenic variant	G/A;T	snv			9
rs1234313	TNFSF4	0.807	0.400	1	173197108	intron variant	A/G	snv		0.72	6
rs844648	TNFSF4 ; LOC100506023	0.807	0.280	1	173254724	regulatory region variant	G/A	snv		0.46	6
rs7708392	TNIP1	0.732	0.400	5	151077924	intron variant	G/C	snv		0.44	13
rs3792783	TNIP1	0.882	0.280	5	151076171	intron variant	A/G	snv		0.25	3
rs3135945	TREX1 ; ATRIP ; ATRIP-TREX1 ; SHISA5	1.000	0.200	3	48467567	synonymous variant	G/A	snv	9.4E-03	4.0E-02	2