rs397515470, ACTB

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.
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
30 0.925 0.280 7 5529175 missense variant C/T snv 0.700 1.000 1 2015 2015
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.280 7 5529175 missense variant C/T snv 0.010 1.000 1 2013 2013