TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Generalized Thyroid Hormone Resistance ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs189261858
rs189261858 		0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		Endocrine System Diseases 0.010 1.000 1 2006 2006