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: rs1057516034
rs1057516034
NIPBL
5 0.925 0.120 5 37052453 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516044
rs1057516044
ABCC9
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1345417
rs1345417
SOX2-OT
1 3 181794163 intron variant C/G snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs6542772
rs6542772
LIMS1
1 2 108558159 intron variant C/T snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs7226979
rs7226979
BCL2
3 0.925 0.120 18 63257737 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs984225
rs984225
TBX15
2 1 118961661 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
7 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 0
dbSNP: rs730882202
rs730882202
CACNA1G
4 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0
dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
9 0.882 0.120 3 47848237 missense variant C/A;T snv 0.700 0
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
15 0.827 0.200 X 41343249 stop gained G/T snv 0.700 0