DisGeNET - a database of gene-disease associations

List of associated variants

Primary biliary cirrhosis, C0008312

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
rs17574824	KANSL1	1.000	0.080	17	46037741	non coding transcript exon variant	C/T	snv		0.14	2
rs17575556	KANSL1	1.000	0.080	17	46058461	intron variant	G/A	snv		0.14	2
rs17575850	KANSL1	1.000	0.080	17	46067021	intron variant	C/A	snv		0.14	2
rs17650063	MAPT ; LOC105371800	1.000	0.080	17	45925189	intron variant	A/G	snv		0.14	2
rs17652449	MAPT	1.000	0.080	17	46011571	intron variant	G/A;C	snv			2
rs17652502	MAPT	1.000	0.080	17	46017105	intron variant	G/A;T	snv			2
rs17652748	MAPT	1.000	0.080	17	46026250	3 prime UTR variant	C/T	snv		0.14	2
rs17653193	KANSL1	1.000	0.080	17	46035075	non coding transcript exon variant	G/A	snv		0.14	2
rs17653211	KANSL1	1.000	0.080	17	46035272	non coding transcript exon variant	T/C	snv		0.14	2
rs17653255	KANSL1	1.000	0.080	17	46035377	non coding transcript exon variant	C/A	snv		0.14	2
rs17659881	KANSL1	1.000	0.080	17	46080231	intron variant	A/G	snv		0.14	2
rs17660132	KANSL1	1.000	0.080	17	46088437	non coding transcript exon variant	T/C	snv		0.14	2
rs17660294	KANSL1	1.000	0.080	17	46089735	intron variant	T/C	snv		0.14	2
rs17763533	MAPT-AS1	1.000	0.080	17	45840824	intron variant	T/C	snv		0.14	2
rs1794280		1.000	0.080	6	32699394	intergenic variant	A/T	snv		9.8E-02	2
rs199448	LRRC37A2 ; NSF	1.000	0.080	17	46731635	intron variant	A/G	snv		0.13	2
rs199514	LRRC37A2 ; WNT3	1.000	0.080	17	46779515	intron variant	G/A	snv		0.84	2
rs2069443	SLC4A2 ; CDK5	1.000	0.080	7	151058086	intron variant	T/G	snv		0.32	2
rs2158257	MAPT ; KANSL1	1.000	0.080	17	46026977	3 prime UTR variant	A/C	snv		0.14	2
rs2297067	EXOC3L4	1.000	0.080	14	103100448	missense variant	C/T	snv	0.22	0.20	2
rs2942167	LINC02210-CRHR1 ; LINC02210	1.000	0.080	17	45637652	non coding transcript exon variant	T/A;C	snv			2
rs35730843	POLR2G	0.925	0.080	11	62760162	upstream gene variant	A/C;G	snv		0.12	2
rs3745516	SPIB	0.925	0.080	19	50423485	intron variant	A/G	snv		0.62	2
rs3822659	WWC1	0.925	0.080	5	168431367	missense variant	T/G	snv	8.7E-02	0.12	2
rs389217	LINC02210-CRHR1 ; LINC02210	1.000	0.080	17	45639765	intron variant	C/T	snv		0.14	2