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: rs1057519439
rs1057519439
DNAH7
5 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
dbSNP: rs1114167297
rs1114167297
KIF5B
5 0.851 0.160 10 32019912 missense variant T/C snv 0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
5 0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
5 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
6 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
dbSNP: rs1114167296
rs1114167296
TMEM47
6 0.827 0.160 X 34656995 missense variant C/G 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: 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: rs886041094
rs886041094
UNC80
7 0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs1559307932
rs1559307932
PDE6D
8 0.807 0.360 2 231737190 frameshift variant -/C ins 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: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs672601368
rs672601368
KIF1A
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
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: rs387907329
rs387907329
WDR45 ; PRAF2
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
11 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
11 0.807 0.200 1 26767868 missense variant T/C 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: rs1223073957
rs1223073957
MED25
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
12 0.776 0.400 11 118477973 stop gained C/A snv 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