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
2 0.851 0.160 3 58384450 intron variant G/T snv 0.63 0.700 1.000 1 2011 2011