rs143137713, GYG1

N. diseases: 3
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.
POLYGLUCOSAN BODY MYOPATHY 2
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
7 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.800 1.000 2 2014 2017
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
3 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.700 1.000 2 2014 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03 0.020 1.000 2 2017 2019