TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
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: rs76992529
rs76992529
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0018801
Disease: Heart failure
Heart failure
Cardiovascular Diseases 0.060 0.833 6 2012 2019
dbSNP: rs121918080
rs121918080
0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05
CUI: C0018801
Disease: Heart failure
Heart failure
Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121918090
rs121918090
0.790 0.240 18 31593026 missense variant G/C snv
CUI: C0018801
Disease: Heart failure
Heart failure
Cardiovascular Diseases 0.010 1.000 1 2000 2000