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.
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
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
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
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
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2010 2015
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2015 2015
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
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
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
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.070 0.857 7 2010 2019
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
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
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2001 2001
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
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.060 0.833 6 2012 2019
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
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2016 2016
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
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
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
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
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
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
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