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
rs35730843	POLR2G	0.925	0.080	11	62760162	upstream gene variant	A/C;G	snv		0.12	2
rs2303933	SLC4A2	1.000	0.080	7	151069712	intron variant	A/C;G	snv			1
rs484600	IL12A-AS1	1.000	0.080	3	160012174	intron variant	A/C;G	snv			1
rs531963580	MAPT	1.000	0.080	17	45986357	intron variant	A/C;G	snv			1
rs582537	IL12A ; IL12A-AS1	1.000	0.080	3	159992311	intron variant	A/C;G	snv			1
rs6462562	SDK1	1.000	0.080	7	4048923	intron variant	A/C;G	snv			1
rs9901937	MAPT	1.000	0.080	17	45986357	intron variant	A/C;G	snv			1
rs241041	LINC02210 ; LINC02210-CRHR1	0.925	0.120	17	45636559	non coding transcript exon variant	A/C;G;T	snv		0.14	3
rs13106325	MANBA	1.000	0.080	4	102633835	intron variant	A/C;G;T	snv			1
rs243323	RMI2 ; LOC105371082	1.000	0.080	16	11267345	intron variant	A/C;G;T	snv			1
rs582054	IL12A ; IL12A-AS1	0.882	0.160	3	159992214	intron variant	A/C;T	snv			5
rs11650661	ZPBP2	1.000	0.080	17	39870033	intron variant	A/C;T	snv			1
rs228615	MANBA	1.000	0.080	4	102658303	intron variant	A/C;T	snv			1
rs243317	LOC105371082 ; RMI2	1.000	0.080	16	11263474	intron variant	A/C;T	snv			1
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs2569190	CD14 ; TMCO6	0.620	0.560	5	140633331	intron variant	A/G	snv		0.57	39
rs11065987		0.807	0.280	12	111634620	intergenic variant	A/G	snv		0.29	17
rs6478109	TNFSF15	0.752	0.320	9	114806486	upstream gene variant	A/G	snv		0.74	12
rs8067378		0.752	0.240	17	39895095	regulatory region variant	A/G	snv		0.50	12
rs694739	LOC102723878	0.763	0.320	11	64329761	upstream gene variant	A/G	snv		0.28	9
rs3135363		0.776	0.360	6	32421871	intergenic variant	A/G	snv		0.24	8
rs12708716	CLEC16A	0.807	0.320	16	11086016	intron variant	A/G	snv		0.37	7
rs393152	LINC02210 ; LINC02210-CRHR1	0.851	0.160	17	45641777	non coding transcript exon variant	A/G	snv	0.18	0.29	7