DisGeNET - a database of gene-disease associations

List of associated variants

Autoimmune thyroid disease, C0178468

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
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
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs17879469	HLA-DRB1	0.763	0.360	6	32584333	missense variant	C/G	snv	1.3E-05		9
rs3792876	SLC22A4	0.790	0.280	5	132301616	intron variant	C/T	snv		6.9E-02	7
rs1190356035	GAD1	0.882	0.360	2	170853979	missense variant	G/A	snv		7.0E-06	4
rs1801208	WFS1	0.882	0.360	4	6301162	missense variant	G/A	snv	5.7E-02	5.0E-02	4
rs2276886	CXCL9	0.882	0.120	4	76007275	intron variant	C/A;T	snv			3
rs1167204443	GAD1	0.882	0.160	2	170829475	missense variant	G/C	snv	4.0E-06	1.4E-05	3
rs10930046	IFIH1	0.882	0.200	2	162281473	missense variant	T/C	snv	9.7E-02	0.16	3
rs6432714	IFIH1	0.882	0.160	2	162280842	intron variant	A/T	snv		0.16	3
rs2291282	STAT3	0.882	0.120	17	42346547	intron variant	T/C	snv	1.2E-03	3.4E-04	3
rs2072895	HLA-F	0.925	0.120	6	29724080	splice region variant	C/G;T	snv	0.42		2
rs2735059	HLA-F ; HLA-F-AS1	0.925	0.120	6	29728077	3 prime UTR variant	G/A	snv	0.42	0.42	2
rs751054919	LOC101928462 ; TSHR	1.000	0.080	14	81142960	missense variant	G/A;C	snv	4.0E-06		1