DisGeNET - a database of gene-disease associations

List of associated variants

Gallbladder Carcinoma, C0235782

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
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2695121	NR1H2	0.716	0.280	19	50377484	5 prime UTR variant	T/C	snv		0.70	16
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1126497	EPCAM	0.716	0.200	2	47373967	missense variant	T/C	snv	0.51	0.58	14
rs4791171	AXIN2	0.763	0.080	17	65545379	intron variant	T/C	snv		0.55	11
rs3808607	CYP7A1	0.716	0.400	8	58500365	upstream gene variant	G/T	snv		0.55	16
rs11954856	APC	0.732	0.200	5	112751630	intron variant	T/G	snv		0.54	12
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs20575	TNFRSF10A	0.645	0.440	8	23201811	missense variant	C/G	snv	0.54	0.44	29
rs13959	ALDH1A1	0.790	0.080	9	72930966	synonymous variant	G/A	snv	0.48	0.42	7
rs7922612	PLCE1	0.752	0.080	10	94051682	intron variant	C/T	snv		0.39	14
rs2978974	JRK ; PSCA	0.790	0.200	8	142670446	non coding transcript exon variant	G/A	snv		0.38	7
rs7120118	NR1H3	0.716	0.360	11	47264739	intron variant	T/C	snv		0.38	18
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs35463555	NR1H2	0.776	0.160	19	50374423	intron variant	G/A	snv		0.29	8