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.
Hereditary cardiac amyloidosis
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
1 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2008 2017
Inclusion Body Myositis (disorder)
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
1 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2003 2003
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
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
Transthyretin cardiac amyloidosis
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
2 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.040 1.000 4 2012 2017
Danish type familial amyloid cardiomyopathy
CUI: C0342613
Disease: Danish type familial amyloid cardiomyopathy
2 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2013 2013
Mononeuropathies
CUI: C0494491
Disease: Mononeuropathies
2 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2019 2019
Numbness
CUI: C0028643
Disease: Numbness
2 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2016 2016
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
Inclusion Body Myopathy, Sporadic
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
5 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2000 2000
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
Sessile Serrated Adenoma/Polyp
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
6 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 1990 1990
Primary amyloidosis
CUI: C0268381
Disease: Primary amyloidosis
11 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2009 2009
Reactive systemic amyloidosis
CUI: C0221014
Disease: Reactive systemic amyloidosis
11 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2011 2011
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
Senile cardiac amyloidosis
CUI: C0268407
Disease: Senile cardiac amyloidosis
19 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 14 1997 2019
Monoclonal Gammopathy of Undetermined Significance
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
20 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2018 2018
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2016 2016
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
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2007 2017
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
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2015 2015
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2012 2012
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
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2012 2015