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.
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
Eye Manifestations
CUI: C0015411
Disease: Eye Manifestations
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 10 1985 2018
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
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
Gastrointestinal symptom
CUI: C0426576
Disease: Gastrointestinal symptom
7 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2014 2014
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 0.500 2 2012 2019
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2017 2018
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
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2015 2015
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
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2019 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2013 2013
Liver neoplasms
CUI: C0023903
Disease: Liver neoplasms
7 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2013 2013
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
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
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
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
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
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2013 2013
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
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
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
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