DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: Global developmental delay ×
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: rs750745310
rs750745310 		0.882 0.040 12 32743390 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2016 2016