Source: CLINVAR

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: rs1135402758
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 4 2010 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2013 2014
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2012 2015
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2018 2018
dbSNP: rs1057516038
rs1057516038
KIAA0586
0.925 14 58444158 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs114638163
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs797044519
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs886039777
rs886039777
SON ; MIR6501
0.925 0.120 21 33549517 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1010184002
rs1010184002
PEX6
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
GJB2
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: rs1057518789
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308049
rs1085308049
PTEN
0.925 0.080 10 87957885 stop gained A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs113871094
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1200336864
rs1200336864
TASP1
1.000 20 13625199 stop gained G/A snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0