rs150516929, CRYAB

N. diseases: 8
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.
CARDIOMYOPATHY, DILATED, 1II
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
4 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.800 1.000 2 2006 2006
Cataract
CUI: C0086543
Disease: Cataract
124 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.020 1.000 2 2010 2017
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2017 2017
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2014 2014
Vacuolar myopathy
CUI: C2931230
Disease: Vacuolar myopathy
1 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010
X-linked myopathy with excessive autophagy
CUI: C1839615
Disease: X-linked myopathy with excessive autophagy
9 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010