DisGeNET - a database of gene-disease associations

List of associated variants

Arthritis, Gouty, C0003868

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs4072037	MUC1	0.732	0.240	1	155192276	splice acceptor variant	C/A;T	snv	0.59		22
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs2074755	BAZ1B	0.807	0.240	7	73462836	non coding transcript exon variant	T/C	snv		9.2E-02	20
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs11065987		0.807	0.280	12	111634620	intergenic variant	A/G	snv		0.29	17
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
rs2149356	TLR4	0.742	0.360	9	117711921	intron variant	T/G	snv		0.54	14
rs10774625	ATXN2	0.763	0.320	12	111472415	intron variant	A/G	snv		0.66	13
rs1260333		0.882	0.160	2	27525757	downstream gene variant	A/G	snv		0.58	12
rs17145738	TBL2	0.851	0.200	7	73568544	3 prime UTR variant	C/T	snv		0.11	11
rs9895661	BCAS3	0.882	0.200	17	61379228	non coding transcript exon variant	C/T	snv		0.69	10
rs780092	GCKR	0.827	0.160	2	27520287	intron variant	A/G	snv		0.18	10
rs2068834	ZNF512	0.925	0.120	2	27616672	intron variant	T/C	snv		0.28	10
rs2079742	BCAS3	0.851	0.240	17	61388336	non coding transcript exon variant	T/C	snv		0.20	9
rs2244608	HNF1A ; HNF1A-AS1	0.882	0.160	12	120979185	intron variant	A/G	snv		0.29	9