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: rs6445975
rs6445975
PXK
4 0.851 0.160 3 58384450 intron variant G/T snv 0.63 0.830 1.000 4 2008 2012
dbSNP: rs180977001
rs180977001
PXK
1 1.000 0.080 3 58332737 upstream gene variant A/C snv 4.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs2176082
rs2176082
PXK
2 0.925 0.080 3 58345459 intron variant G/A snv 0.36 0.700 1.000 1 2013 2013