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
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs1444424830	FASTK	0.790	0.080	7	151078923	missense variant	C/T	snv	4.6E-06	7.0E-06	7
rs778985185	EGFR	0.851	0.160	7	55163734	missense variant	G/A	snv	8.0E-06	3.5E-05	5
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs20575	TNFRSF10A	0.645	0.440	8	23201811	missense variant	C/G	snv	0.54	0.44	29
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs3808607	CYP7A1	0.716	0.400	8	58500365	upstream gene variant	G/T	snv		0.55	16
rs3824260	CYP7A1	0.742	0.160	8	58500631	upstream gene variant	A/G;T	snv			11
rs6557634	TNFRSF10A	0.763	0.080	8	23202743	missense variant	T/C	snv			11
rs2978974	JRK ; PSCA	0.790	0.200	8	142670446	non coding transcript exon variant	G/A	snv		0.38	7
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs13959	ALDH1A1	0.790	0.080	9	72930966	synonymous variant	G/A	snv	0.48	0.42	7
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		30
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs7922612	PLCE1	0.752	0.080	10	94051682	intron variant	C/T	snv		0.39	14
rs2486758	CYP17A1	0.742	0.160	10	102837723	upstream gene variant	T/C	snv		0.18	11
rs951540403	PLCE1	0.790	0.080	10	94132433	missense variant	G/C	snv			7
rs7120118	NR1H3	0.716	0.360	11	47264739	intron variant	T/C	snv		0.38	18
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
rs4595552		0.790	0.080	11	125865825	intergenic variant	C/G;T	snv			7
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			9