rs76992529, TTR

N. diseases: 36
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 12 2001 2019
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
CUI: C3151471
Disease: AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
1 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Anemia
CUI: C0002871
Disease: Anemia
94 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Bone marrow hypocellularity
CUI: C1855710
Disease: Bone marrow hypocellularity
5 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
4 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Transthyretin related familial amyloid cardiomyopathy
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
1 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
Carpal Tunnel Syndrome
CUI: C0007286
Disease: Carpal Tunnel Syndrome
46 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.710 1.000 1 2019 2019
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.780 1.000 8 2001 2019
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.860 1.000 44 1986 2019