TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Thyrotoxicosis ×
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: rs1204330294
rs1204330294 		1.000 0.040 14 81143173 missense variant A/C snv 8.7E-05; 4.0E-06 1.4E-05
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908864
rs121908864 		0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121908876
rs121908876 		0.925 0.040 14 81143572 missense variant G/A snv
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121908880
rs121908880 		0.882 0.040 14 81143973 missense variant C/T snv
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		Endocrine System Diseases 0.010 1.000 1 1999 1999