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: rs1556046720
rs1556046720
ARX
1 1.000 0.160 X 25004810 frameshift variant GGGCGCCCGATGCCA/CTGCGCC delins 0.700 0