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: rs121913584
rs121913584
MPZ
3 0.925 0.080 1 161306886 missense variant G/A;C;T snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs121913598
rs121913598
MPZ
5 0.851 0.080 1 161307361 missense variant G/A snv 0.010 < 0.001 1 1998 1998
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006