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: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.030 1.000 3 2007 2011
dbSNP: rs5030868
rs5030868
9 0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 0.010 1.000 1 2014 2014