rs28933979, TTR

N. diseases: 70
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.
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.700 0
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
4 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.700 0
Gastrointestinal dysfunction
CUI: C0679407
Disease: Gastrointestinal dysfunction
6 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 1999 1999
Cerebral Amyloid Angiopathy
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
22 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
Kidney Failure
CUI: C0035078
Disease: Kidney Failure
36 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2003 2003
Secondary glaucoma
CUI: C0149893
Disease: Secondary glaucoma
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2003 2003
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
10 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2004 2004
Spinocerebellar Ataxia Type 1
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
4 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2004 2004
Systemic amyloidosis
CUI: C0268380
Disease: Systemic amyloidosis
10 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2004 2004
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2005 2005
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2005 2005
Paresis
CUI: C0030552
Disease: Paresis
49 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2005 2005
Mixed sensory-motor polyneuropathy
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
8 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 0.500 2 2001 2006
Familial Amyloid Neuropathy, Portuguese Type
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2000 2007
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
Small Fiber Neuropathy
CUI: C3276706
Disease: Small Fiber Neuropathy
8 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
Severe diarrhea
CUI: C1443924
Disease: Severe diarrhea
6 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2008 2008
Anemia
CUI: C0002871
Disease: Anemia
94 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2007 2010
Bilateral carpal tunnel syndrome
CUI: C3864035
Disease: Bilateral carpal tunnel syndrome
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2010 2010
Senile systemic amyloidosis
CUI: C0342623
Disease: Senile systemic amyloidosis
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2010 2010
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2004 2011