DisGeNET - a database of gene-disease associations

List of associated variants

Uric acid measurement (procedure), C0202239

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
rs2076211	PNPLA3	1.000		22	43933198	intron variant	C/A;T	snv		0.18	3
rs12484795	PNPLA3			22	43947746	intron variant	A/C	snv		0.21	1
rs12484809	PNPLA3			22	43929751	intron variant	C/T	snv		0.18	1
rs12485100	PNPLA3			22	43929636	intron variant	G/A;T	snv			1
rs144505070	TUBGCP6 ; SELENOO			22	50217293	missense variant	C/G;T	snv	8.2E-06; 2.4E-03		1
rs2281293	PNPLA3			22	43938962	intron variant	T/C	snv		0.20	1
rs219781	LOC105369301 ; CLDN14	1.000	0.120	21	36460323	non coding transcript exon variant	G/T	snv		0.25	2
rs2834319	LOC105372790			21	33984724	regulatory region variant	T/C	snv		0.16	2
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	21
rs11554266	GNAS	1.000	0.040	20	58903791	splice region variant	C/G;T	snv	4.0E-06; 2.3E-03		4
rs1407040	GNAS			20	58897119	intron variant	C/T	snv		0.70	4
rs6026578	GNAS ; LOC101927932			20	58888417	5 prime UTR variant	C/G	snv		0.60	4
rs61754122	BCAS1	1.000	0.040	20	54028628	missense variant	C/A;T	snv	1.1E-02; 8.0E-06		3
rs78260152	LINC01721	1.000	0.080	20	24146125	intron variant	C/T	snv		5.2E-02	2
rs12625256	JAG1			20	10657738	intron variant	A/T	snv		0.37	1
rs142773928	HNF4A			20	44410080	intron variant	G/A;T	snv			1
rs6031596	HNF4A			20	44426231	intron variant	A/G	snv		0.41	1
rs6031598	HNF4A			20	44427509	intron variant	G/A;T	snv			1
rs6119510	NCOA6			20	34699978	intron variant	T/G	snv		0.36	1
rs6119524	NCOA6			20	34786010	intron variant	C/T	snv		0.35	1
rs6138584	NINL			20	25482512	intron variant	T/A	snv		0.15	1
rs7267595	JAG1			20	10663202	intron variant	A/C;T	snv		0.55	1
rs73611258	TOP1 ; PLCG1-AS1			20	41113644	intron variant	A/G	snv		0.17	1
rs1035942	INSR	0.925	0.120	19	7199792	intron variant	A/G	snv		0.75	3
rs142085340	SIPA1L3	1.000	0.080	19	38106538	splice region variant	C/T	snv	9.1E-05	3.0E-04	3