DisGeNET - a database of gene-disease associations

List of associated variants

Cholangiocarcinoma, C0206698

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
rs763569821	MUC1	0.851	0.160	1	155188197	missense variant	T/C	snv	1.2E-05		4
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs3219476	MUTYH	0.882	0.200	1	45336998	intron variant	A/C	snv		0.58	3
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs2076310	RXRB	0.925	0.080	6	33198257	intron variant	A/G	snv	0.27	0.28	2
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs8004738	SERPINA1	0.925	0.080	14	94390577	5 prime UTR variant	G/A	snv		0.55	2
rs761937143	SMAD4	1.000	0.040	18	51047229	synonymous variant	A/C	snv	8.0E-06		1
rs3769839	SP110 ; SP140	0.925	0.080	2	230211910	intron variant	T/C	snv		0.12	2
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs3219472	TOE1 ; MUTYH	0.882	0.160	1	45338378	5 prime UTR variant	C/T	snv		0.26	3
rs2289278	TSLP	0.827	0.200	5	111073450	5 prime UTR variant	C/G	snv		8.7E-02	5
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs2106261	ZFHX3	0.763	0.160	16	73017721	intron variant	C/G;T	snv			11