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.
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
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2005 2015
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
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2006 2016
Sessile Serrated Adenoma/Polyp
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
6 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2006 2012
Machado-Joseph Disease
CUI: C0024408
Disease: Machado-Joseph Disease
12 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2006 2017
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
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
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 12 2008 2020
Autonomic nervous system disorders
CUI: C1145628
Disease: Autonomic nervous system disorders
7 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2008 2014
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2008 2014
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
Carpal Tunnel Syndrome
CUI: C0007286
Disease: Carpal Tunnel Syndrome
46 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.730 0.667 3 2009 2017
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
10 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2009 2011
Senile systemic amyloidosis (SSA)
CUI: C4509024
Disease: Senile systemic amyloidosis (SSA)
1 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2009 2012
Numbness
CUI: C0028643
Disease: Numbness
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2010 2018
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
Amyloid of vitreous
CUI: C0339562
Disease: Amyloid of vitreous
1 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2011 2011
Neuralgia
CUI: C0027796
Disease: Neuralgia
16 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2011 2011
Presbyopia
CUI: C0033075
Disease: Presbyopia
1 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2011 2011