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
rs9591325	DLEU1	0.851	0.080	13	50237084	intron variant	T/C	snv		6.0E-02	5
rs12134279		0.925	0.080	1	197812068	regulatory region variant	C/T	snv		0.17	4
rs2006996		0.882	0.080	9	114830358	regulatory region variant	T/C	snv		7.2E-02	4
rs413778	LINC02210-CRHR1 ; LINC02210	0.882	0.080	17	45639519	splice region variant	A/G	snv		0.14	4
rs7208487	FBXL20	0.925	0.080	17	39387196	intron variant	T/A;G	snv			4
rs12449852	CDK12	1.000	0.080	17	39475835	intron variant	A/G	snv		0.79	3
rs12935413	CLEC16A	1.000	0.080	16	11116590	intron variant	G/A	snv		0.34	3
rs199525	WNT3 ; LRRC37A2	1.000	0.080	17	46770468	intron variant	T/A;G	snv			3
rs422112	LINC02210-CRHR1 ; LINC02210	1.000	0.080	17	45650771	non coding transcript exon variant	G/A	snv		0.14	3
rs6556412	LOC285626	0.925	0.080	5	159360377	intron variant	G/A	snv		0.33	3
rs715412		1.000	0.080	11	118813901	regulatory region variant	G/A	snv		0.17	3
rs1052594	MAPT	1.000	0.080	17	46025323	3 prime UTR variant	G/A;C	snv			2
rs1076222	KANSL1	1.000	0.080	17	46032403	non coding transcript exon variant	C/G;T	snv			2
rs10931468	NAB1	0.925	0.080	2	190673836	intron variant	C/A;G;T	snv			2
rs11079729	KANSL1	1.000	0.080	17	46038203	non coding transcript exon variant	C/A;T	snv			2
rs11237982		1.000	0.080	11	79730650	intergenic variant	T/C	snv		0.18	2
rs12150090	KANSL1	1.000	0.080	17	46038520	non coding transcript exon variant	C/G;T	snv	8.0E-06; 0.14		2
rs12150111	LOC105371800 ; MAPT	1.000	0.080	17	45936572	intron variant	A/G	snv		0.14	2
rs12150447	KANSL1	1.000	0.080	17	46050759	intron variant	A/C;G	snv			2
rs12627970		1.000	0.080	22	39325740	TF binding site variant	A/G	snv		0.19	2
rs13300483	DELEC1	1.000	0.080	9	114881082	intron variant	C/T	snv		0.21	2
rs1448427	ITGAV	0.925	0.080	2	186661945	intron variant	G/A	snv		0.31	2
rs16940799	MAPT	1.000	0.080	17	46025567	3 prime UTR variant	T/C	snv		0.14	2
rs17129789	IL12RB2	0.925	0.080	1	67324915	intron variant	T/C	snv		0.17	2
rs17574040	MAPT	1.000	0.080	17	46025499	3 prime UTR variant	A/C	snv		0.14	2