rs748537564, CLCN1

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.
Becker Generalized Myotonia
CUI: C0751360
Disease: Becker Generalized Myotonia
67 0.882 0.160 7 143345595 missense variant C/A;T snv 9.5E-05 0.010 1.000 1 1999 1999
Becker Muscular Dystrophy
CUI: C0917713
Disease: Becker Muscular Dystrophy
34 0.882 0.160 7 143345595 missense variant C/A;T snv 9.5E-05 0.010 1.000 1 1999 1999
Obscure African cardiomyopathy
CUI: C1959600
Disease: Obscure African cardiomyopathy
1 0.882 0.160 7 143345595 missense variant C/A;T snv 9.5E-05 0.010 1.000 1 1999 1999