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
rs526231		1.000	0.080	5	103345680	intergenic variant	C/T	snv		0.24	1
rs34536443	TYK2	0.667	0.400	19	10352442	missense variant	G/C	snv	2.7E-02	2.8E-02	25
rs2304256	TYK2	0.732	0.360	19	10364976	missense variant	C/A	snv	0.27	0.23	13
rs805722	COL17A1	1.000	0.080	10	104050642	missense variant	T/A;C	snv	8.0E-06; 0.78		1
rs11191909	COL17A1	1.000	0.080	10	104053243	intron variant	C/T	snv		0.15	1
rs1747677	COL17A1	1.000	0.080	10	104055483	intron variant	A/C	snv		0.75	1
rs61376250	COL17A1	1.000	0.080	10	104055483	intron variant	-/C;CAC;CACAC	ins			1
rs805693	COL17A1	1.000	0.080	10	104055566	intron variant	A/G;T	snv			1
rs805694	COL17A1	1.000	0.080	10	104055696	intron variant	G/A	snv		0.74	1
rs9971100	COL17A1	1.000	0.080	10	104066661	intron variant	A/C	snv		0.19	1
rs2274107	COL17A1	1.000	0.080	10	104078945	intron variant	G/A	snv		0.14	1
rs12358982		1.000	0.080	10	104094571	regulatory region variant	A/G	snv		0.14	1
rs1005999		1.000	0.080	2	104907333	intron variant	C/T	snv		0.25	1
rs725613	CLEC16A	0.851	0.240	16	11075826	intron variant	T/G	snv		0.42	4
rs12925642	CLEC16A	1.000	0.080	16	11077745	intron variant	A/G	snv		0.40	1
rs2058531	CLEC16A	1.000	0.080	16	11078252	intron variant	T/C	snv		0.41	1
rs9652582	CLEC16A	1.000	0.080	16	11080707	intron variant	G/A	snv		0.40	1
rs2041670	CLEC16A	0.851	0.280	16	11080795	intron variant	G/A;C	snv			4
rs12708715	CLEC16A	1.000	0.080	16	11083967	intron variant	C/T	snv		0.39	1
rs12708716	CLEC16A	0.807	0.320	16	11086016	intron variant	A/G	snv		0.37	7
rs7203793	CLEC16A	1.000	0.080	16	11088277	intron variant	C/G;T	snv			1
rs12924729	CLEC16A	0.882	0.200	16	11093926	intron variant	G/A	snv		0.34	3
rs12927355	CLEC16A	0.882	0.240	16	11100914	intron variant	C/A;T	snv		0.29	3
rs9746695	CLEC16A	1.000	0.080	16	11114037	intron variant	T/A;C	snv		0.32	1
rs12935413	CLEC16A	1.000	0.080	16	11116590	intron variant	G/A	snv		0.34	3