DisGeNET - a database of gene-disease associations

List of shared variants

Systemic Scleroderma, C0036421

Disease: Primary biliary cirrhosis

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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs4728142		0.732	0.320	7	128933913	upstream gene variant	G/A	snv		0.38	18
rs10488631	TNPO3	0.742	0.280	7	128954129	upstream gene variant	T/C	snv		9.0E-02	13
rs2304256	TYK2	0.732	0.360	19	10364976	missense variant	C/A	snv	0.27	0.23	13
rs11889341	STAT4	0.732	0.480	2	191079016	intron variant	C/T	snv		0.21	12
rs2205960	TNFSF4	0.763	0.400	1	173222336	intergenic variant	G/A;T	snv			9
rs10168266	STAT4	0.776	0.400	2	191071078	intron variant	C/T	snv		0.19	8
rs7665090	MANBA	0.807	0.280	4	102630446	downstream gene variant	A/G	snv		0.55	6
rs12531711	TNPO3	0.827	0.200	7	128977412	intron variant	A/C;G	snv			5
rs13238352	TNPO3	0.827	0.240	7	129007888	intron variant	C/T	snv		9.1E-02	5
rs6659932	IL12RB2	0.827	0.240	1	67336688	intron variant	A/C	snv		0.81	5
rs11117432		0.851	0.200	16	85985665	upstream gene variant	G/A	snv		0.15	4
rs11724804	DGKQ	0.882	0.160	4	971991	intron variant	G/A	snv		0.43	4
rs1372072	PLCL2	0.851	0.200	3	16913767	intron variant	G/A	snv		0.35	4
rs230534	NFKB1	0.882	0.120	4	102527884	intron variant	T/C	snv		0.73	3