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
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		30
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
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
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		28
rs6259	SHBG	0.658	0.400	17	7633209	missense variant	G/A	snv	8.9E-02	8.1E-02	27
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06		24
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs876660821	TP53	0.689	0.400	17	7675075	missense variant	A/C;G;T	snv			22
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs7120118	NR1H3	0.716	0.360	11	47264739	intron variant	T/C	snv		0.38	18