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: rs2285666
rs2285666
4 0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23 0.010 1.000 1 2009 2009