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: rs5953283
rs5953283
2 0.925 0.080 X 49283326 intron variant A/G;T snv 0.700 1.000 1 2019 2019