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: rs1514280
rs1514280
3 1.000 X 15568325 intron variant A/G snv 0.010 1.000 1 2013 2013