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.
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
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
4 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2019 2019
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
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
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
psychological disturbance
CUI: C0849888
Disease: psychological disturbance
1 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 2018
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
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
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
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
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
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
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
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