DisGeNET - a database of gene-disease associations

rs189261858, LOC101928462;TSHR

N. diseases: 8

Disease: Thyroid Hormone Resistance Syndrome ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Thyroid Hormone Resistance Syndrome

CUI:	C2940786
Disease:	Thyroid Hormone Resistance Syndrome

5

0.776

0.160

14

81143407

missense variant

G/A;T

snv

2.3E-04

0.010

1.000

2006

2006