rs869312739, ACTA1

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.
MYOPATHY, SCAPULOHUMEROPERONEAL
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
2 1.000 1 229432295 missense variant C/A snv 0.800 1.000 1 2015 2015
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 1.000 1 229432295 missense variant C/A snv 0.010 1.000 1 2019 2019