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: rs776095655
rs776095655
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 1.000 3 2011 2015
dbSNP: rs1057518821
rs1057518821
1.000 1 42930671 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1557644984
rs1557644984
0.925 0.080 1 42927622 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0