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: rs104894746
rs104894746
ARX
2 0.925 0.160 X 25010274 stop gained C/A;T snv 0.700 0
dbSNP: rs587783191
rs587783191
ARX
2 0.925 0.160 X 25004894 frameshift variant C/- delins 0.700 0
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.800 1.000 3 2002 2017
dbSNP: rs398122965
rs398122965
TBC1D24
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 2 2014 2016
dbSNP: rs398122967
rs398122967
TBC1D24
12 0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 0.700 0