rs121918312, BAG3

N. diseases: 11
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.
Myopathy, Myofibrillar, Bag3-Related
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.800 1.000 12 2009 2016
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.776 0.160 10 119672373 missense variant C/A;T snv 0.730 1.000 3 2010 2016
CARDIOMYOPATHY, DILATED, 1HH
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
21 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 1.000 11 2009 2016
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 0
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.776 0.160 10 119672373 missense variant C/A;T snv 0.020 1.000 2 2015 2018
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
13 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2010 2010
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2019 2019
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
24 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2018 2018
Mixed sensory-motor polyneuropathy
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
8 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2014 2014
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015