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: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
dbSNP: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.020 1.000 2 2004 2004
dbSNP: rs797044845
rs797044845
MPZ
3 0.882 0.080 1 161307311 missense variant C/T snv 0.010 1.000 1 2013 2013