MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783772
rs587783772
0.776 0.200 X 150659665 missense variant G/A;T snv
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0