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: rs1057518707
rs1057518707
DDX3X
1 1.000 X 41345206 missense variant G/A snv 0.800 1.000 1 2015 2015
dbSNP: rs1057519430
rs1057519430
DDX3X
5 0.925 X 41346946 missense variant C/T snv 0.800 0
dbSNP: rs796052231
rs796052231
DDX3X
1 1.000 X 41345280 missense variant C/T snv 0.800 0
dbSNP: rs796052235
rs796052235
DDX3X
1 1.000 X 41346376 missense variant G/A snv 0.800 0
dbSNP: rs797045024
rs797045024
DDX3X
1 1.000 X 41346527 missense variant T/C snv 0.800 0
dbSNP: rs797045025
rs797045025
DDX3X
3 0.925 X 41344351 missense variant G/A snv 0.800 0
dbSNP: rs797045026
rs797045026
DDX3X
1 1.000 X 41345238 missense variant C/T snv 0.800 0
dbSNP: rs1057519431
rs1057519431
DDX3X
1 1.000 X 41341521 frameshift variant -/A delins 0.700 0
dbSNP: rs1057519446
rs1057519446
DDX3X
1 1.000 X 41342572 missense variant G/A;C;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1064794574
rs1064794574
DDX3X
1 1.000 X 41346336 missense variant C/G;T snv 0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs1267519974
rs1267519974
DDX3X
1 1.000 X 41344084 missense variant C/T snv 0.700 0
dbSNP: rs1555951993
rs1555951993
DDX3X
1 1.000 X 41339045 missense variant A/G snv 0.700 0
dbSNP: rs1555953398
rs1555953398
DDX3X
1 1.000 X 41344030 frameshift variant -/A delins 0.700 0
dbSNP: rs1555953819
rs1555953819
DDX3X
1 1.000 X 41345252 frameshift variant -/C delins 0.700 0
dbSNP: rs1555954105
rs1555954105
DDX3X
1 1.000 X 41346342 missense variant C/G snv 0.700 0
dbSNP: rs1555954154
rs1555954154
DDX3X
1 1.000 X 41346399 missense variant G/A snv 0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1569234653
rs1569234653
DDX3X
1 1.000 X 41339068 stop gained C/T snv 0.700 0
dbSNP: rs1569240005
rs1569240005
DDX3X
2 1.000 X 41346352 missense variant G/C snv 0.700 0
dbSNP: rs752738546
rs752738546
DDX3X
4 1.000 X 41343802 stop gained G/A;T snv 5.6E-06 0.700 0
dbSNP: rs796052223
rs796052223
DDX3X
1 1.000 X 41343755 missense variant C/T snv 0.700 0
dbSNP: rs796052224
rs796052224
DDX3X
1 1.000 X 41343761 missense variant T/C snv 0.700 0
dbSNP: rs796052226
rs796052226
DDX3X
1 1.000 X 41346548 missense variant T/C snv 0.700 0
dbSNP: rs796052232
rs796052232
DDX3X
1 1.000 X 41345408 missense variant T/C snv 0.700 0