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: rs2176082
rs2176082
PXK
2 0.925 0.080 3 58345459 intron variant G/A snv 0.36 0.800 1.000 1 2013 2013
dbSNP: rs4076852
rs4076852
PXK
1 1.000 0.040 3 58389559 intron variant G/A snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs4681851
rs4681851
PXK
1 1.000 0.040 3 58410164 splice region variant C/G snv 0.15 0.15 0.700 1.000 1 2014 2014