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: rs1557175424
rs1557175424
2 0.925 0.080 X 154350030 splice donor variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs143873938
rs143873938
4 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010