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
rs735403	MANBA	1.000	0.080	4	102632386	intron variant	C/T	snv		0.55	1
rs735404	MANBA	1.000	0.080	4	102632508	intron variant	G/A	snv		0.55	1
rs735405	MANBA	1.000	0.080	4	102632759	intron variant	A/C	snv		0.55	1
rs1077358	MANBA	1.000	0.080	4	102632769	intron variant	C/T	snv		0.55	1
rs2866406	MANBA	1.000	0.080	4	102632862	intron variant	G/A	snv		0.55	1
rs2866407	MANBA	1.000	0.080	4	102632951	intron variant	C/G	snv		0.55	1
rs2866408	MANBA	1.000	0.080	4	102632956	intron variant	T/A	snv		0.55	1
rs2866409	MANBA	1.000	0.080	4	102633104	intron variant	T/G	snv		0.55	1
rs2866412	MANBA	1.000	0.080	4	102633193	intron variant	T/A	snv		0.55	1
rs12498722	MANBA	1.000	0.080	4	102633365	missense variant	C/T	snv		0.55	1
rs5026476	MANBA	1.000	0.080	4	102633753	intron variant	A/C	snv		0.55	1
rs13106304	MANBA	1.000	0.080	4	102633818	intron variant	A/G;T	snv			1
rs13106325	MANBA	1.000	0.080	4	102633835	intron variant	A/C;G;T	snv			1
rs6821119	MANBA	1.000	0.080	4	102634076	intron variant	T/A;C	snv			1
rs6844332	MANBA	1.000	0.080	4	102634095	intron variant	G/A	snv		0.55	1
rs6812747	MANBA	1.000	0.080	4	102634260	intron variant	A/C	snv		0.55	1
rs6813322	MANBA	1.000	0.080	4	102634462	intron variant	C/A;G	snv			1
rs6839064	MANBA	1.000	0.080	4	102634519	intron variant	T/C	snv		0.55	1
rs2272695	MANBA	1.000	0.080	4	102634646	intron variant	G/C;T	snv			1
rs2272696	MANBA	1.000	0.080	4	102634664	intron variant	G/A	snv		0.55	1
rs2866413	MANBA	1.000	0.080	4	102635920	missense variant	G/A;C	snv	0.54; 2.4E-05		1
rs228615	MANBA	1.000	0.080	4	102658303	intron variant	A/C;T	snv			1
rs228616	MANBA	1.000	0.080	4	102658534	intron variant	G/A;T	snv			1
rs8017161	EXOC3L4	0.925	0.080	14	103096858	intron variant	G/A	snv		0.38	2
rs2297067	EXOC3L4	1.000	0.080	14	103100448	missense variant	C/T	snv	0.22	0.20	2