DisGeNET - a database of gene-disease associations

List of associated variants

Ankylosing spondylitis, C0038013

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	26
rs1065489	CFH	0.695	0.440	1	196740644	missense variant	G/T	snv	0.20	0.15	19
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs3091244	CRP	0.724	0.280	1	159714875	upstream gene variant	G/A;T	snv			17
rs1050501	FCGR2B	0.732	0.440	1	161674008	missense variant	T/C	snv	0.16	0.19	15
rs2794521	CRP	0.742	0.480	1	159715306	upstream gene variant	C/T	snv		0.78	15
rs11580078	C1orf141 ; IL23R	0.724	0.240	1	67203951	intron variant	C/A;G	snv			14
rs2066363	ADGRL2	0.724	0.240	1	81771892	intron variant	C/T	snv		0.71	14
rs2201841	C1orf141 ; IL23R	0.716	0.440	1	67228519	intron variant	A/G;T	snv			14
rs34884278		0.724	0.240	1	172869708	intron variant	C/T	snv		0.63	14
rs55705316		0.724	0.240	1	206760172	regulatory region variant	T/A;G	snv			14
rs6689858	CRB1	0.724	0.240	1	197406337	intron variant	T/C	snv		0.39	14
rs4129267	IL6R	0.807	0.200	1	154453788	intron variant	C/G;T	snv			13
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs2488457	AP4B1-AS1 ; PTPN22	0.763	0.480	1	113872746	intron variant	G/A;C	snv			11
rs3024490	IL10 ; IL19	0.742	0.520	1	206771966	intron variant	A/C;G;T	snv			11
rs11209032		0.752	0.400	1	67274409	upstream gene variant	G/A	snv		0.30	10
rs11465804	IL23R	0.752	0.320	1	67236843	intron variant	T/G	snv	4.4E-02	5.4E-02	10