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: rs4911871
rs4911871
1 1.000 0.080 X 114762580 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2009 2009