rs1373863123, ACTB

N. diseases: 4
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.
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2013 2013
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016
Paresis
CUI: C0030552
Disease: Paresis
49 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016