TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia ×
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: rs267607159
rs267607159 		0.925 0.080 18 31598616 missense variant G/A;T snv 5.6E-05 4.9E-05
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 1.000 1 1990 1990
dbSNP: rs121918091
rs121918091 		0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 0
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 0