rs1555899177, SON

N. diseases: 4
Disease: Muscle hypotonia ×
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 hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 21 33554005 frameshift variant ACTC/- del 0.700 1.000 28 1988 2016