DisGeNET - a database of gene-disease associations

List of associated variants

Thyroid Diseases, C0040128

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs713041	GPX4	0.776	0.400	19	1106616	stop gained	T/A;C	snv	4.2E-06; 0.58		16
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		14
rs4684677	GHRLOS ; GHRL	0.742	0.360	3	10286769	missense variant	T/A	snv	0.10	6.6E-02	13
rs4704397	PDE8B	0.807	0.200	5	77222617	intron variant	G/A	snv		0.54	13
rs1207011218	CTLA4	0.742	0.440	2	203870794	synonymous variant	C/T	snv			12
rs6438552	GSK3B	0.790	0.280	3	119912967	intron variant	A/G	snv		0.54	9
rs28665122	SELENOS	0.807	0.240	15	101277522	upstream gene variant	C/T	snv		0.24	7
rs179247	TSHR	0.882	0.160	14	80966202	intron variant	A/G	snv		0.40	5
rs4522865	BANK1	0.882	0.240	4	101794731	intron variant	G/A;T	snv			4
rs996807218	KIDINS220	0.882	0.080	2	8827045	missense variant	T/C	snv			4
rs2074451	GPX4	0.925	0.080	19	1107036	downstream gene variant	T/A;G	snv			3
rs3746165	GPX4	0.925	0.080	19	1102212	upstream gene variant	A/G	snv		0.54	3
rs7178239		1.000	0.040	15	101267907	downstream gene variant	C/G	snv		0.37	2
rs27178	PDE4D			5	59291199	intron variant	A/G;T	snv			1