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
rs135851	C22orf34	0.925	0.040	22	49583909	intron variant	A/C	snv		4.4E-02	2
rs253314	MYO10	0.925	0.040	5	16871155	intron variant	A/C	snv		6.9E-02	2
rs8083296	L3MBTL4	0.925	0.040	18	6158717	intron variant	A/C	snv		5.4E-02	2
rs10094715		0.925	0.040	8	46473341	intergenic variant	A/G	snv		9.8E-03	2
rs1011770	BAZ2B	0.925	0.040	2	159382207	intron variant	A/G	snv		2.5E-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
rs17063627	GNA14	0.925	0.040	9	77424742	intron variant	A/G	snv		7.2E-02	2
rs10146997	NRXN3	0.827	0.240	14	79478819	intron variant	A/G	snv		0.25	1
rs2865108		0.925	0.040	7	67861752	intergenic variant	C/A	snv		0.89	2
rs10888095	SGCZ	0.925	0.040	8	15004905	intron variant	C/A;G	snv			2
rs4245791	ABCG8	0.882	0.080	2	43847292	non coding transcript exon variant	C/A;T	snv			4
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		3
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	5
rs41506144	FRMD4A	0.925	0.040	10	13834687	intron variant	C/G;T	snv			2
rs887829	UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9	0.763	0.280	2	233759924	intron variant	C/T	snv		0.36	6
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	5
rs10998022	MYPN	0.925	0.040	10	68210229	intron variant	C/T	snv		0.26	2
rs1111875		0.776	0.360	10	92703125	intergenic variant	C/T	snv		0.36	2
rs2013647	ZNF28	0.925	0.040	19	52827416	intron variant	C/T	snv		0.11	2
rs4149000	SLCO1A2	0.882	0.080	12	21295063	non coding transcript exon variant	C/T	snv		0.11	2
rs738785	GUSBP11	0.925	0.040	22	23680444	intron variant	C/T	snv		0.49	2
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	7
rs4953023	ABCG8	0.925	0.040	2	43846861	non coding transcript exon variant	G/A	snv		6.9E-02	5
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	4