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
rs1003723	LDLR ; MIR6886	0.925	0.080	19	11113505	non coding transcript exon variant	C/A;T	snv	4.0E-06; 0.40		2
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1126579	CXCR2	0.776	0.200	2	218136011	3 prime UTR variant	T/C	snv		0.62	8
rs1126580	CXCR2	0.882	0.120	2	218136243	3 prime UTR variant	G/A;T	snv			3
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs11635252	CRTC3	0.925	0.080	15	90528542	upstream gene variant	T/C	snv		0.88	4
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs1194919682	CXCR4 ; LOC112268426	0.925	0.040	2	136115158	missense variant	A/G	snv			2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs17851045	KRAS	0.672	0.400	12	25227341	missense variant	T/A;G	snv	4.0E-06		27
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs2076310	RXRB	0.925	0.080	6	33198257	intron variant	A/G	snv	0.27	0.28	2
rs2106261	ZFHX3	0.763	0.160	16	73017721	intron variant	C/G;T	snv			11
rs2230054	CXCR2	0.925	0.080	2	218135587	synonymous variant	C/T	snv	0.48	0.54	2
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	19
rs2287622	ABCB11	0.724	0.240	2	168973818	missense variant	A/C;G;T	snv	0.57		16
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
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193