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: rs1375722963
rs1375722963
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs147630867
rs147630867
2 0.925 0.080 X 119243160 missense variant A/G snv 1.1E-03 1.2E-03 0.010 1.000 1 2008 2008