DisGeNET - a database of gene-disease associations

List of associated variants

Osteoarthritis of hip, C0029410

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs143383	GDF5	0.724	0.320	20	35438203	5 prime UTR variant	G/A	snv		0.47	17
rs3117582	BAG6 ; APOM	0.716	0.440	6	31652743	intron variant	T/G	snv		7.1E-02	14
rs7775	FRZB	0.732	0.240	2	182834857	missense variant	G/A;C;T	snv	8.0E-05; 8.0E-02; 5.6E-05		14
rs419598	IL1RN	0.742	0.280	2	113129630	synonymous variant	T/C	snv	0.26	0.21	13
rs11730582	SPP1	0.807	0.240	4	87975269	non coding transcript exon variant	T/C	snv		0.37	10
rs1256031	ESR2	0.790	0.200	14	64279461	intron variant	G/A;T	snv		0.57	9
rs288326	FRZB	0.807	0.120	2	182838608	missense variant	G/A	snv	8.2E-02	8.3E-02	9
rs2820443		0.882	0.120	1	219580167	regulatory region variant	T/C	snv		0.23	8
rs11096957	TLR10	0.790	0.160	4	38774870	missense variant	T/G	snv	0.42	0.41	8
rs3753841	COL11A1	0.827	0.080	1	102914362	missense variant	G/A	snv	0.61	0.49	7
rs12885300	DIO2 ; DIO2-AS1	0.790	0.200	14	80211923	5 prime UTR variant	C/A;G;T	snv			7
rs9930333	FTO	0.882	0.120	16	53766065	intron variant	T/C;G	snv			7
rs8044769	FTO	0.851	0.200	16	53805223	intron variant	T/A;C;G	snv			6
rs12885713	CALM1	0.827	0.200	14	90397013	intron variant	C/A;G;T	snv			5
rs121912891	COL2A1	0.882	0.080	12	47976052	missense variant	C/T	snv		7.0E-06	5
rs10116772	GLIS3	0.882	0.080	9	4290541	intron variant	C/A;T	snv			4
rs6976	GNL3 ; GLT8D1	0.851	0.080	3	52694788	3 prime UTR variant	C/T	snv	0.38	0.33	4