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: rs1057516048
rs1057516048
NSD1
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1559155954
rs1559155954
OBSL1
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
14 1.000 0.200 6 43041036 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs760929207
rs760929207
OBSL1
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs137852981
rs137852981
ZEB2
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
9 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1568269273
rs1568269273
NFIX
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs763028380
rs763028380
ABCC8
12 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0