Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556004813
rs1556004813
ZDHHC9
X 129812816 frameshift variant G/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2007 2015