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.
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
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, 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
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
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
Familial Amyloid Neuropathy, Portuguese Type
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.030 1.000 3 2000 2007
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
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
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
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
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
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
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
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
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
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