TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Hyperthyroidism, Nonautoimmune ×
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: rs121908864
rs121908864 		0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs121908877
rs121908877 		0.925 0.040 14 81143945 missense variant G/A;T snv 4.0E-06
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.710 1.000 1 1997 1997
dbSNP: rs121908861
rs121908861 		0.925 0.040 14 81143949 missense variant T/C snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0
dbSNP: rs121908873
rs121908873 		0.790 0.160 14 81139828 missense variant G/A;T snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0
dbSNP: rs121908874
rs121908874 		0.807 0.080 14 81143584 missense variant T/C snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0
dbSNP: rs121908875
rs121908875 		0.925 0.040 14 81144073 missense variant G/A snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0
dbSNP: rs121908876
rs121908876 		0.925 0.040 14 81143572 missense variant G/A snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0
dbSNP: rs121908880
rs121908880 		0.882 0.040 14 81143973 missense variant C/T snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0
dbSNP: rs121908883
rs121908883 		1.000 0.040 14 81143349 missense variant G/A snv
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		Endocrine System Diseases 0.700 0