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
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs2201841	C1orf141 ; IL23R	0.716	0.440	1	67228519	intron variant	A/G;T	snv			14
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs17879469	HLA-DRB1	0.763	0.360	6	32584333	missense variant	C/G	snv	1.3E-05		9
rs7005834	CCN4	0.827	0.160	8	133201961	intron variant	C/A;T	snv			6
rs11250144	BLK	0.925	0.200	8	11528767	intron variant	G/A;C	snv			2
rs11652878	ITGAE	0.925	0.160	17	3751686	missense variant	A/C;G	snv	4.0E-06; 0.12		2
rs1057745	MED29	1.000	0.160	19	39397750	missense variant	G/A;C	snv	1.3E-05; 0.13		1
rs1378228	DDAH1	1.000	0.160	1	85570890	intron variant	G/C;T	snv			1
rs287084	PDZRN4	1.000	0.160	12	41550605	intron variant	T/C	snv			1
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs12756618		1.000	0.160	1	85587205	downstream gene variant	C/T	snv		4.5E-02	1
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs733618	CTLA4	0.763	0.440	2	203866221	upstream gene variant	T/C	snv		0.10	12
rs1393491		1.000	0.160	10	100367390	downstream gene variant	T/C	snv		0.15	1
rs11611206	LOC105369818 ; MDM1	0.851	0.200	12	68274666	intron variant	G/A	snv		0.15	4
rs16840252	CTLA4	0.776	0.480	2	203866796	upstream gene variant	C/T	snv		0.16	8
rs1179251	IL22 ; LOC105369818	0.763	0.320	12	68251271	intron variant	C/G	snv		0.18	14
rs2267873	DIO2	0.925	0.160	14	80207471	intron variant	A/G	snv		0.20	2
rs13143866	IL21 ; IL21-AS1	0.851	0.200	4	122619603	intron variant	G/A	snv		0.24	4
rs3753793	CCN1 ; DDAH1	0.851	0.240	1	85580205	upstream gene variant	A/C	snv		0.26	4
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40