DisGeNET - a database of gene-disease associations

List of associated variants

Graves Disease, C0018213

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
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs3761549	FOXP3	0.724	0.480	X	49260888	intron variant	G/A	snv		9.6E-02	18
rs3853839	TLR7	0.752	0.480	X	12889539	3 prime UTR variant	C/G;T	snv			10
rs3827440	GPR174 ; LOC107985690	0.851	0.120	X	79171491	missense variant	T/A;C	snv	5.5E-06; 0.51		6
rs179010	TLR7	0.882	0.200	X	12884766	intron variant	T/C	snv			3
rs3761547	FOXP3	0.882	0.200	X	49262004	intron variant	T/C	snv		9.6E-02	3
rs5912838	LOC107985690	0.925	0.280	X	79241621	intergenic variant	A/C	snv			2
rs3747440		1.000	0.120	X	134172554	non coding transcript exon variant	C/G	snv			1
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs1483068801	P2RX6	1.000	0.120	22	21025861	missense variant	T/C	snv	1.1E-05		2
rs229527	C1QTNF6	0.925	0.160	22	37185445	missense variant	C/A;G	snv	0.43		2
rs5998672	UBE2L3	0.925	0.120	22	21612153	intron variant	G/A	snv		0.31	2
rs2284038	RAC2	1.000	0.120	22	37239015	intron variant	A/G	snv		0.41	1
rs15927	ICOSLG	1.000	0.120	21	44227763	3 prime UTR variant	C/T	snv			1
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
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
rs2424913	DNMT3B	0.708	0.440	20	32786453	intron variant	C/T	snv	0.56	0.53	18
rs6110809	MACROD2	0.925	0.120	20	15870432	intron variant	A/G	snv		0.67	2
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs12976445	SPACA6 ; SPACA6P-AS ; MIRLET7E ; MIR125A	0.689	0.600	19	51693200	non coding transcript exon variant	T/C	snv		0.45	20
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19