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: rs28933979
rs28933979
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2009 2011
dbSNP: rs121918097
rs121918097
0.790 0.280 18 31595137 missense variant G/A snv
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2001 2001