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: rs1556912828
rs1556912828
HUWE1
6 0.925 0.280 X 53536209 missense variant G/C snv 0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
5 0.882 0.280 X 53536488 missense variant T/C snv 0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
7 0.851 0.280 X 53536580 missense variant G/C snv 0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
6 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs1556978515
rs1556978515
HUWE1
7 0.851 0.280 X 53591113 missense variant T/C snv 0.700 0
dbSNP: rs1557006873
rs1557006873
HUWE1
4 0.925 0.280 X 53615786 missense variant A/C snv 0.700 0
dbSNP: rs1557006903
rs1557006903
HUWE1
5 0.851 0.280 X 53615815 missense variant C/T snv 0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0
dbSNP: rs1557036757
rs1557036757
HUWE1
7 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
7 X 77633315 missense variant C/A snv 0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 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: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs372392424
rs372392424
PIGG
8 0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 0.700 0
dbSNP: rs375761808
rs375761808
ARID1A
6 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs377619533
rs377619533
ASXL3
5 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T 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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0