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.
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
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 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
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
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
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
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
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
Anemia
CUI: C0002871
Disease: Anemia
94 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2007 2010
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
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
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
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2004 2011
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.700 0
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
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
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
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