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: rs727505397
rs727505397
3 0.882 0.240 X 41553782 missense variant C/T snv 0.010 1.000 1 2018 2018