DisGeNET - a database of gene-disease associations

List of associated variants

Intrahepatic Cholangiocarcinoma, C0345905

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs754332870	TP53	0.790	0.240	17	7676240	missense variant	C/G	snv	4.0E-06		9
rs768617095	MAGI1	0.851	0.080	3	65470335	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		4
rs183606230	CDH2	0.882	0.080	18	28013691	missense variant	A/G	snv	4.0E-06	2.1E-05	3
rs368054556	KAT6A	0.925	0.040	8	41934056	missense variant	C/G	snv	1.6E-05	1.4E-05	2
rs2257205	RNF43 ; TSPOAP1-AS1	0.925	0.080	17	58370936	missense variant	C/A;T	snv	4.1E-06; 4.1E-06; 0.16	0.14	2
rs1406835103	MECOM	1.000	0.040	3	169116446	missense variant	G/A	snv			1