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: rs1057516032
rs1057516032
4 1.000 19 41970211 protein altering variant AGTCT/GA delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518786
rs1057518786
5 1.000 6 33441374 splice region variant G/A snv 0.700 0
dbSNP: rs1057518794
rs1057518794
ARX
1 X 25004777 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs1057519450
rs1057519450
1 14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins 0.700 0
dbSNP: rs1557106484
rs1557106484
7 X 77633315 missense variant C/A snv 0.700 0
dbSNP: rs377619533
rs377619533
5 1.000 18 33743312 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs397514582
rs397514582
4 0.925 20 63439656 missense variant C/A;T snv 0.700 0
dbSNP: rs750371878
rs750371878
4 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs778899140
rs778899140
5 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs797046136
rs797046136
1 10 129848391 splice donor variant C/A snv 0.700 0
dbSNP: rs1057519567
rs1057519567
5 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs145999922
rs145999922
5 0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1561500885
rs1561500885
2 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs775835429
rs775835429
4 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057518928
rs1057518928
3 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0
dbSNP: rs1555889127
rs1555889127
6 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
dbSNP: rs1057516031
rs1057516031
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434578
rs121434578
5 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1561498701
rs1561498701
5 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
dbSNP: rs724159991
rs724159991
5 1.000 0.080 16 8781360 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
5 1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs1553511224
rs1553511224
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs1555736565
rs1555736565
3 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0
dbSNP: rs1562927768
rs1562927768
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs724159990
rs724159990
5 1.000 0.080 16 8768220 missense variant C/T snv 0.700 0