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: rs3761581
rs3761581
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.020 0.500 2 2010 2016
dbSNP: rs2235312
rs2235312
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs56204867
rs56204867
3 0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11 0.010 < 0.001 1 2016 2016