DisGeNET - a database of gene-disease associations

List of shared variants

Cholecystolithiasis, C0947622

Disease: Malignant neoplasm of gallbladder

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
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs20575	TNFRSF10A	0.645	0.440	8	23201811	missense variant	C/G	snv	0.54	0.44	29
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
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
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		11
rs6557634	TNFRSF10A	0.763	0.080	8	23202743	missense variant	T/C	snv			11