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: rs387906309
rs387906309
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 3 2012 2014
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 2 2017 2017
dbSNP: rs1057519463
rs1057519463
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2014 2014
dbSNP: rs1057519464
rs1057519464
0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2014 2014
dbSNP: rs1057519467
rs1057519467
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2012 2012
dbSNP: rs1057519468
rs1057519468
0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2014 2014
dbSNP: rs1057519565
rs1057519565
0.851 0.200 11 687941 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2017 2017
dbSNP: rs121907966
rs121907966
0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 1992 1992
dbSNP: rs121907972
rs121907972
0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2012 2012
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2014 2014
dbSNP: rs752298579
rs752298579
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2016 2016
dbSNP: rs762374961
rs762374961
0.925 0.160 15 72346235 stop gained C/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2014 2014
dbSNP: rs773446161
rs773446161
0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 1997 1997
dbSNP: rs786204585
rs786204585
0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2014 2014
dbSNP: rs869312825
rs869312825
0.827 0.120 1 1804548 start lost T/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 1.000 1 2016 2016
dbSNP: rs1057516264
rs1057516264
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057516945
rs1057516945
0.925 0.160 11 6616973 splice donor variant A/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057518843
rs1057518843
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057519437
rs1057519437
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057519465
rs1057519465
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057519466
rs1057519466
0.925 0.160 15 72346307 frameshift variant G/- del
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057521737
rs1057521737
0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1057524820
rs1057524820
0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0
dbSNP: rs1060499679
rs1060499679
0.851 0.280 12 101770496 inframe deletion GTG/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.700 0