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: rs1555493029
rs1555493029
COG7
10 0.851 0.240 16 23406263 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555497604
rs1555497604
COG7
10 0.851 0.240 16 23452993 start lost A/G snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs1559307932
rs1559307932
PDE6D
8 0.807 0.360 2 231737190 frameshift variant -/C ins 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1568269273
rs1568269273
NFIX
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs185476065
rs185476065
QARS1 ; MIR6890
11 0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.700 0
dbSNP: rs200473652
rs200473652
UNC80
7 0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
36 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs529855742
rs529855742
SGSH
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs61751035
rs61751035
RPS6KC1
6 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs746800707
rs746800707
AAR2
8 0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs776291104
rs776291104
MED25
12 0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
5 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
dbSNP: rs886041094
rs886041094
UNC80
7 0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 0.700 0