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.
Systemic amyloidosis
CUI: C0268380
Disease: 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
Small Fiber Neuropathy
CUI: C3276706
Disease: Small Fiber Neuropathy
8 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
Severe diarrhea
CUI: C1443924
Disease: Severe diarrhea
6 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2008 2008
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
Senile systemic amyloidosis (SSA)
CUI: C4509024
Disease: Senile systemic amyloidosis (SSA)
1 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2009 2012
Senile systemic amyloidosis
CUI: C0342623
Disease: Senile systemic amyloidosis
2 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2010 2010
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
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
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
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
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2007 2007
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
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
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
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
Plaque, Amyloid
CUI: C2936349
Disease: Plaque, Amyloid
10 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2009 2011
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
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
Paresis
CUI: C0030552
Disease: Paresis
49 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2005 2005
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
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
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
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