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: rs776679653
rs776679653
11 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
dbSNP: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1553510492
rs1553510492
4 2 161419040 missense variant A/G snv 0.700 0
dbSNP: rs1555321402
rs1555321402
3 0.925 0.240 14 28768345 frameshift variant T/- delins 0.700 0
dbSNP: rs1564062144
rs1564062144
7 1.000 9 83972190 splice acceptor variant C/T snv 0.700 0
dbSNP: rs267606826
rs267606826
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs74315442
rs74315442
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs869312662
rs869312662
ARX
2 1.000 0.040 X 25012988 frameshift variant GTGAAC/TGGTACA delins 0.700 0