DisGeNET - a database of gene-disease associations

List of associated variants

Thyroid associated opthalmopathies, C0339143

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
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs225014	DIO2	0.695	0.400	14	80203237	missense variant	T/C	snv	0.41	0.39	22
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs2201841	C1orf141 ; IL23R	0.716	0.440	1	67228519	intron variant	A/G;T	snv			14
rs1179251	IL22 ; LOC105369818	0.763	0.320	12	68251271	intron variant	C/G	snv		0.18	14
rs733618	CTLA4	0.763	0.440	2	203866221	upstream gene variant	T/C	snv		0.10	12
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs907715	IL21	0.752	0.520	4	122613898	intron variant	C/T	snv		0.35	11
rs4969170	LOC101928674	0.752	0.440	17	78364457	intron variant	A/C;G	snv		0.54	11
rs1143643	IL1B	0.790	0.320	2	112830725	intron variant	C/T	snv		0.29	10
rs17879469	HLA-DRB1	0.763	0.360	6	32584333	missense variant	C/G	snv	1.3E-05		9
rs16840252	CTLA4	0.776	0.480	2	203866796	upstream gene variant	C/T	snv		0.16	8
rs40401	IL3 ; LOC105379174	0.776	0.440	5	132060785	missense variant	C/T	snv	0.29	0.33	8
rs10004195	TLR10	0.790	0.320	4	38783103	upstream gene variant	T/A	snv		0.29	8
rs3806933	TSLP	0.807	0.360	5	111071044	5 prime UTR variant	C/A;T	snv		0.40	7