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: rs121913598
rs121913598
MPZ
5 0.851 0.080 1 161307361 missense variant G/A snv 0.010 < 0.001 1 1998 1998
dbSNP: rs119483085
rs119483085
5 0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 0.010 1.000 1 2013 2013
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: rs1334828551
rs1334828551
2 1 20500800 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs200092345
rs200092345
2 8 19458576 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs207482230
rs207482230
TFG
5 0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
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
dbSNP: rs533235539
rs533235539
2 8 19405853 missense variant A/C snv 1.5E-04 9.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs587777425
rs587777425
3 1.000 1 160237145 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs587780564
rs587780564
5 0.882 0.080 14 101986017 missense variant C/T snv 0.710 1.000 1 2015 2015
dbSNP: rs80338934
rs80338934
4 0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2013 2013