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.
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.700 0
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
4 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.700 0
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
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
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
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
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
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
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
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
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 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
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
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
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
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
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
Secondary glaucoma
CUI: C0149893
Disease: Secondary glaucoma
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2003 2003
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
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
Primary Systemic Amyloidosis
CUI: C0281479
Disease: Primary Systemic Amyloidosis
10 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2004 2004
Spinocerebellar Ataxia Type 1
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
4 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2004 2004