DisGeNET - a database of gene-disease associations

List of associated variants

THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, C2937288

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
rs121918697	THRB	0.882	0.040	3	24127631	missense variant	G/A	snv			4
rs1553609210	THRB	0.851	0.040	3	24122984	missense variant	C/T	snv			4
rs121918690	THRB	0.882	0.040	3	24127694	missense variant	C/T	snv			3
rs28933408	THRB	0.882	0.160	3	24122913	missense variant	G/A;C;T	snv	8.0E-06		3
rs121918686	THRB	0.925	0.040	3	24127610	missense variant	C/A;G;T	snv			2
rs121918691	THRB	0.925	0.040	3	24122946	missense variant	T/C	snv			2
rs121918693	THRB	0.925	0.040	3	24127684	missense variant	C/A;T	snv			2
rs121918694	THRB	0.925	0.040	3	24143539	missense variant	C/G;T	snv			2
rs121918696	THRB	0.925	0.040	3	24127685	missense variant	G/A	snv			2
rs121918702	THRB	0.925	0.040	3	24122894	missense variant	A/C	snv			2
rs121918703	THRB	0.925	0.040	3	24122934	missense variant	A/G	snv			2
rs121918704	THRB	0.925	0.040	3	24122897	missense variant	A/G	snv			2
rs121918706	THRB	0.925	0.040	3	24143511	missense variant	C/T	snv			2
rs121918707	THRB	0.925	0.040	3	24143512	missense variant	G/A;C	snv		7.0E-06	2
rs121918708	THRB	0.925	0.040	3	24123122	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs1553609185	THRB	0.925	0.040	3	24122965	missense variant	A/C	snv			2
rs1553610984	THRB	0.925	0.040	3	24127622	missense variant	G/C	snv			2
rs28999970	THRB	0.925	0.040	3	24127609	missense variant	C/A;T	snv			2
rs750905761	THRB	0.925	0.040	3	24133398	missense variant	G/A;C	snv	4.0E-06		2
rs1057519028	THRB	1.000	0.040	3	24122919	missense variant	A/C;G	snv			1
rs1060499695	THRB	1.000	0.040	3	24127666	missense variant	T/C	snv			1
rs121918687	THRB	1.000	0.040	3	24122912	missense variant	G/T	snv			1
rs121918688	THRB	1.000	0.040	3	24127623	missense variant	C/G;T	snv	4.0E-06		1
rs121918692	THRB	1.000	0.040	3	24122943	missense variant	T/C	snv			1
rs121918698	THRB	1.000	0.040	3	24122957	missense variant	C/T	snv		7.0E-06	1