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
rs10004195	TLR10	0.790	0.320	4	38783103	upstream gene variant	T/A	snv		0.29	8
rs1003199	IL12B	1.000	0.160	5	159328558	intron variant	C/T	snv		0.43	1
rs1057745	MED29	1.000	0.160	19	39397750	missense variant	G/A;C	snv	1.3E-05; 0.13		1
rs1061501	IRF7	0.851	0.200	11	614864	synonymous variant	C/T	snv	0.83	0.85	4
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs11083522	MIR4530 ; PLEKHG2	1.000	0.160	19	39410971	upstream gene variant	T/C	snv		0.32	1
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs11250144	BLK	0.925	0.200	8	11528767	intron variant	G/A;C	snv			2
rs1143643	IL1B	0.790	0.320	2	112830725	intron variant	C/T	snv		0.29	10
rs11611206	LOC105369818 ; MDM1	0.851	0.200	12	68274666	intron variant	G/A	snv		0.15	4
rs11652878	ITGAE	0.925	0.160	17	3751686	missense variant	A/C;G	snv	4.0E-06; 0.12		2
rs11675434	TPO	0.827	0.240	2	1404043	non coding transcript exon variant	C/T	snv		0.39	5
rs1179251	IL22 ; LOC105369818	0.763	0.320	12	68251271	intron variant	C/G	snv		0.18	14
rs1264439	ABCF1 ; MIR877	1.000	0.160	6	30584725	intron variant	A/C	snv		0.74	1
rs12756618		1.000	0.160	1	85587205	downstream gene variant	C/T	snv		4.5E-02	1
rs12885526	TSHR ; LOC101928462	0.925	0.160	14	81108085	intron variant	G/A	snv		0.63	2
rs13143866	IL21 ; IL21-AS1	0.851	0.200	4	122619603	intron variant	G/A	snv		0.24	4
rs1378228	DDAH1	1.000	0.160	1	85570890	intron variant	G/C;T	snv			1
rs1393491		1.000	0.160	10	100367390	downstream gene variant	T/C	snv		0.15	1
rs16840252	CTLA4	0.776	0.480	2	203866796	upstream gene variant	C/T	snv		0.16	8
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs17879469	HLA-DRB1	0.763	0.360	6	32584333	missense variant	C/G	snv	1.3E-05		9
rs179247	TSHR	0.882	0.160	14	80966202	intron variant	A/G	snv		0.40	5
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43