TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Subclinical hypothyroidism ×
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: rs121908869
rs121908869 		0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1294870139
rs1294870139 		0.925 0.120 14 81143638 missense variant T/C snv 8.0E-06
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs139892516
rs139892516 		0.925 0.120 14 81143649 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs189261858
rs189261858 		0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2010 2010