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: rs587779766
rs587779766
AHDC1
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
AHDC1
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
AHDC1
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs758865880
rs758865880
KYNU
8 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379
KYNU
8 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs797045140
rs797045140
IQSEC2
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs878853169
rs878853169
NBEA
4 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs926027867
rs926027867
CAMK2A
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1057518781
rs1057518781
MCOLN1
7 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
5 1.000 6 33441374 splice region variant G/A snv 0.700 0
dbSNP: rs1057518918
rs1057518918
ARID1B
6 0.882 0.160 6 157184329 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518926
rs1057518926
FOXP1
5 0.925 0.120 3 70977675 missense variant G/C snv 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1057519440
rs1057519440
GSPT2
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0