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: rs267608421
rs267608421
2 0.923 0.071 X 18510855 splice donor variant G/T snp 0.700 1 2015 2015