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: rs142375870
rs142375870
0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 1.000 1 2019 2019
dbSNP: rs144553163
rs144553163
0.925 0.080 19 35299590 missense variant C/T snv 3.7E-03 3.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 1.000 1 2019 2019