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.
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
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
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
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
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
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2013 2013
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2013 2013
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
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
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
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
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2003 2015
CNS metastases
CUI: C0686377
Disease: CNS metastases
14 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2015 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
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
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
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2017 2017
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2017 2017
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
12 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2017 2017
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
12 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 11 2000 2018