rs76992529, TTR

N. diseases: 36
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.
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2007 2017
Hereditary cardiac amyloidosis
CUI: C1719315
Disease: Hereditary cardiac amyloidosis
1 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2008 2017
Monoclonal Gammopathy of Undetermined Significance
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
20 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2018 2018
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
68 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.860 1.000 44 1986 2019
Senile cardiac amyloidosis
CUI: C0268407
Disease: Senile cardiac amyloidosis
19 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 14 1997 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 12 2001 2019
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.780 1.000 8 2001 2019
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.070 0.857 7 2010 2019
Heart failure
CUI: C0018801
Disease: Heart failure
201 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.060 0.833 6 2012 2019
Carpal Tunnel Syndrome
CUI: C0007286
Disease: Carpal Tunnel Syndrome
46 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.710 1.000 1 2019 2019
Mononeuropathies
CUI: C0494491
Disease: Mononeuropathies
2 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2019 2019