DisGeNET - a database of gene-disease associations

List of associated variants

Cholelithiasis, C0008350

Source: GWASDB ×

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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
rs4299376	LOC102725159 ; ABCG8	0.851	0.120	2	43845437	intron variant	G/C;T	snv			6
rs887829	UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9	0.763	0.280	2	233759924	intron variant	C/T	snv		0.36	6
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	4
rs6742078	UGT1A3 ; UGT1A7 ; UGT1A8 ; UGT1A10 ; UGT1A6 ; UGT1A4 ; UGT1A9 ; UGT1A1 ; UGT1A5	0.807	0.240	2	233763993	intron variant	G/T	snv		0.36	3
rs1011770	BAZ2B	0.925	0.040	2	159382207	intron variant	A/G	snv		2.5E-02	2
rs10888095	SGCZ	0.925	0.040	8	15004905	intron variant	C/A;G	snv			2
rs10998022	MYPN	0.925	0.040	10	68210229	intron variant	C/T	snv		0.26	2
rs11186149	SH2D4B	0.925	0.040	10	80580951	intron variant	T/C	snv		8.6E-02	2
rs135851	C22orf34	0.925	0.040	22	49583909	intron variant	A/C	snv		4.4E-02	2
rs1475029	LOC729296 ; MIR646HG	0.925	0.040	20	60093953	intron variant	A/G	snv		0.23	2
rs16824658	HMCN1	0.925	0.040	1	185895380	intron variant	A/G	snv		7.6E-02	2
rs16843641	TANC1	0.925	0.040	2	159061866	intron variant	T/C	snv		1.2E-02	2
rs17063627	GNA14	0.925	0.040	9	77424742	intron variant	A/G	snv		7.2E-02	2
rs17088392	DACH1	0.925	0.040	13	71683104	intron variant	T/C	snv		8.5E-02	2
rs17241442	TNC ; DELEC1	0.925	0.040	9	115062806	intron variant	G/A	snv		0.11	2
rs2013647	ZNF28	0.925	0.040	19	52827416	intron variant	C/T	snv		0.11	2
rs2241423	MAP2K5	0.882	0.120	15	67794500	intron variant	G/A	snv		0.29	2
rs253314	MYO10	0.925	0.040	5	16871155	intron variant	A/C	snv		6.9E-02	2
rs41506144	FRMD4A	0.925	0.040	10	13834687	intron variant	C/G;T	snv			2
rs6598902	STX12	0.925	0.040	1	27779198	intron variant	T/C	snv		0.18	2
rs738785	GUSBP11	0.925	0.040	22	23680444	intron variant	C/T	snv		0.49	2
rs8061765	TMEM114	0.925	0.040	16	8540871	intron variant	G/A	snv		0.11	2
rs8083296	L3MBTL4	0.925	0.040	18	6158717	intron variant	A/C	snv		5.4E-02	2
rs9906298	CA10	0.925	0.040	17	51702890	intron variant	T/C	snv		9.2E-02	2
rs10146997	NRXN3	0.827	0.240	14	79478819	intron variant	A/G	snv		0.25	1