Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519429
rs1057519429
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.710 1.000 0 2017 2017
dbSNP: rs369867819
rs369867819
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.710 1.000 0 2019 2019
dbSNP: rs1010184002
rs1010184002
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs104894396
rs104894396
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057516049
rs1057516049
0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057516264
rs1057516264
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518345
rs1057518345
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518681
rs1057518681
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518770
rs1057518770
1.000 15 25354536 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518776
rs1057518776
0.925 0.080 14 101986027 missense variant T/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518786
rs1057518786
1.000 6 33441374 splice region variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518789
rs1057518789
0.925 0.040 16 3728803 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518796
rs1057518796
1.000 6 33443751 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518821
rs1057518821
1.000 1 42930671 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518843
rs1057518843
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518848
rs1057518848
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518849
rs1057518849
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518853
rs1057518853
0.882 0.120 X 20161641 splice donor variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518864
rs1057518864
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518913
rs1057518913
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518918
rs1057518918
0.882 0.160 6 157184329 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518921
rs1057518921
1.000 X 71132465 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518932
rs1057518932
1.000 17 44855003 missense variant T/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs1057518951
rs1057518951
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0