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: rs12688220
rs12688220
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.020 1.000 2 2018 2020
dbSNP: rs7057398
rs7057398
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.020 1.000 2 2018 2020