DisGeNET - a database of gene-disease associations

List of shared variants

Low density lipoprotein cholesterol measurement, C0202117

Disease: Cholelithiasis

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
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	21
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		11
rs4299376	LOC102725159 ; ABCG8	0.851	0.120	2	43845437	intron variant	G/C;T	snv			11
rs4245791	ABCG8	0.882	0.080	2	43847292	non coding transcript exon variant	C/A;T	snv			8
rs2072183	NPC1L1	0.925	0.040	7	44539581	synonymous variant	G/A;C	snv	4.0E-06; 0.25		6
rs4953023	ABCG8	0.925	0.040	2	43846861	non coding transcript exon variant	G/A	snv		6.9E-02	6
rs6756629	ABCG5 ; ABCG8	0.925	0.080	2	43837951	missense variant	G/A;T	snv	6.7E-02		5