Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs730882236
rs730882236
COG6
3 0.925 0.280 13 39699477 intron variant A/G snv 0.700 0
dbSNP: rs1555313219
rs1555313219
CHD8 ; SNORD9
2 1.000 14 21393500 stop gained C/A;T snv 0.700 1.000 4 2012 2016
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1064796738
rs1064796738
KIF11
5 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs1554434435
rs1554434435
CAMK2B
4 1.000 7 44284206 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
5 0.882 0.120 17 67975933 stop gained A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1562159088
rs1562159088
WASF1
2 1.000 0.040 6 110100644 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159562
rs1562159562
WASF1
1 6 110101594 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs546151500
rs546151500
ZNF142
5 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044519
rs797044519
DYRK1A
9 0.925 21 37478285 stop gained C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
DYRK1A
6 0.925 21 37505442 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
6 0.851 0.320 10 87933175 stop gained T/G snv 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs1135401733
rs1135401733
HNRNPU
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 0
dbSNP: rs1135401765
rs1135401765
MED13L
2 1.000 12 115982386 stop gained G/A snv 0.700 0
dbSNP: rs1135401770
rs1135401770
ZBTB18
2 1.000 1 244053916 stop gained C/G;T snv 0.700 0
dbSNP: rs121434616
rs121434616
CUL4B
6 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0