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.
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
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.900 0.989 88 1984 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.980 49 1986 2019
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
16 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 43 1998 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.972 36 1992 2019
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.968 31 1984 2019
Senile cardiac amyloidosis
CUI: C0268407
Disease: Senile cardiac amyloidosis
19 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 16 1999 2019
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
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
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
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
Autonomic neuropathy
CUI: C0259749
Disease: Autonomic neuropathy
7 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.060 1.000 6 2004 2018
Amyloid Neuropathies
CUI: C0206247
Disease: Amyloid Neuropathies
3 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2004 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
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
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
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