SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
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: rs1195505218
rs1195505218 		0.925 0.040 11 792142 missense variant C/T snv 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1565035177
rs1565035177 		0.925 0.040 11 792146 frameshift variant CA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0