rs116840799, CAV3;SSUH2

N. diseases: 2
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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 1.000 0.040 3 8745599 missense variant C/G snv 0.010 1.000 1 2004 2004
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 1.000 0.040 3 8745599 missense variant C/G snv 0.010 1.000 1 2004 2004