DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Graves Disease ×

Variants associated to the Gene: TSHR ×

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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
rs8022600	CEP128 ; TSHR	1.000	0.120	14	80955079	5 prime UTR variant	G/T	snv		0.50	1
rs17111394	LOC101928462 ; TSHR	1.000	0.120	14	81056784	intron variant	T/C	snv		0.13	1
rs10145099	TSHR	1.000	0.120	14	80990350	intron variant	C/T	snv		0.35	1
rs12101261	TSHR	1.000	0.120	14	80984885	intron variant	C/T	snv		0.37	1
rs17545038	TSHR	1.000	0.120	14	80991228	intron variant	T/C	snv		0.20	1
rs179247	TSHR	0.882	0.160	14	80966202	intron variant	A/G	snv		0.40	1
rs179249	TSHR	1.000	0.120	14	80968855	intron variant	C/T	snv		0.59	1
rs2284720	TSHR	1.000	0.120	14	80976823	intron variant	A/G	snv		0.18	1
rs2284722	TSHR	1.000	0.120	14	80978023	intron variant	G/A	snv		0.27	1
rs2300519	TSHR	1.000	0.120	14	80992418	3 prime UTR variant	T/A	snv		0.41	1
rs2300525	TSHR	1.000	0.120	14	81031049	intron variant	T/C	snv		0.24	1
rs4903964	TSHR	1.000	0.120	14	81002610	intron variant	G/A;C	snv			1
rs56885347	TSHR	1.000	0.120	14	80992418	3 prime UTR variant	-/AAA	delins			1
rs3783949	TSHR ; BHLHB9P1	1.000	0.120	14	80982038	non coding transcript exon variant	T/G	snv		0.48	1