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: rs1057518845
rs1057518845
5 0.923 0.071 12 23755726 splice acceptor variant T/G snp 0.700 1 2015 2015
dbSNP: rs1057518879
rs1057518879
19 0.801 0.214 1 11965571 stop gained G/A snp 0.700 1 2015 2015
dbSNP: rs1057518928
rs1057518928
3 1.000 0.036 12 23665471 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs397514582
rs397514582
3 1.000 20 63439656 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs587783405
rs587783405
9 0.878 0.107 X 18588021 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs66527965
rs66527965
29 0.801 0.179 17 50193038 missense variant C/A,T snp 0.700 1 2015 2015
dbSNP: rs749895856
rs749895856
8 1.000 0.143 1 53211110 missense variant A/G,T snp 1.2E-05; 4.0E-05 9.6E-05 0.700 1 2015 2015
dbSNP: rs763028380
rs763028380
12 0.878 0.214 11 17453271 missense variant C/G,T snp 4.0E-06; 1.6E-05 0.700 1 2015 2015
dbSNP: rs765468645
rs765468645
5 0.923 0.107 8 93765413 stop gained C/T snp 8.0E-06 3.2E-05 0.700 1 2015 2015
dbSNP: rs794727792
rs794727792
8 0.846 0.107 9 127661140 stop gained C/A,T snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs1057518786
rs1057518786
5 6 33441374 missense variant G/A snp 0.700 0
dbSNP: rs1057518794
rs1057518794
ARX
1 X 25004777 frameshift variant CGTCT/C in-del 0.700 0
dbSNP: rs1057519437
rs1057519437
6 0.878 0.179 10 129957300 missense variant C/T snp 0.700 0
dbSNP: rs1057519443
rs1057519443
7 0.923 0.107 2 201675255 missense variant A/G snp 0.700 0
dbSNP: rs1057519444
rs1057519444
5 1.000 0.107 22 32518208 missense variant GG/AA multinucleotide-polymorphism 0.700 0
dbSNP: rs1057519450
rs1057519450
1 14 73537831 frameshift variant GAGCCGGTGCGCGCG/G in-del 0.700 0
dbSNP: rs753242774
rs753242774
9 1.000 3 47848237 missense variant C/A,T snp 0.700 0