ACTL6B, actin like 6B, 51412

N. diseases: 100; N. variants: 7
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: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019