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.
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
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
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
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
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
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
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
Axonal sensorimotor neuropathy
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 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
Breathing abnormally deep
CUI: C1321587
Disease: Breathing abnormally deep
1 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 2018
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
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
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
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
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
Disorder of eye
CUI: C0015397
Disease: Disorder of eye
14 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 2018
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
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
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