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: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.760 1.000 6 1999 2004
dbSNP: rs58982919
rs58982919
10 0.790 0.080 8 24956223 missense variant T/C snv 0.050 1.000 5 2002 2018
dbSNP: rs119103268
rs119103268
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
dbSNP: rs104894078
rs104894078
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.720 1.000 2 2010 2015
dbSNP: rs104894345
rs104894345
6 0.827 0.080 12 119187080 missense variant G/C;T snv 0.720 1.000 2 2006 2017
dbSNP: rs104894621
rs104894621
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
dbSNP: rs1057515421
rs1057515421
2 0.925 0.120 1 156136284 stop gained C/T snv 0.020 1.000 2 2003 2008
dbSNP: rs1553259760
rs1553259760
MPZ
2 0.925 0.080 1 161307299 missense variant T/C snv 0.020 1.000 2 2004 2018
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.020 1.000 2 2002 2019
dbSNP: rs281865140
rs281865140
2 0.925 0.080 8 24955515 missense variant T/C;G snv 0.020 1.000 2 2006 2012
dbSNP: rs397515323
rs397515323
7 0.851 0.080 X 24503479 missense variant G/A snv 0.020 1.000 2 2016 2016
dbSNP: rs57105105
rs57105105
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs59443585
rs59443585
2 0.925 0.080 8 24955521 missense variant T/G snv 0.020 1.000 2 2006 2012
dbSNP: rs62636503
rs62636503
3 0.882 0.080 8 24953779 missense variant C/T snv 0.020 1.000 2 2015 2017
dbSNP: rs879253869
rs879253869
3 0.925 0.080 8 81444935 missense variant A/T snv 0.020 1.000 2 2016 2019
dbSNP: rs104894158
rs104894158
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894159
rs104894159
5 0.827 0.080 10 62813413 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894161
rs104894161
6 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894351
rs104894351
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.710 1.000 1 2006 2006
dbSNP: rs104894617
rs104894617
4 0.851 0.080 17 15260681 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs104894623
rs104894623
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894706
rs104894706
PRX
2 0.925 0.080 19 40397766 stop gained G/A;C;T snv 0.010 1.000 1 2001 2001
dbSNP: rs104894814
rs104894814
2 0.925 0.080 X 71224365 stop gained C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894822
rs104894822
2 0.925 0.080 X 71224321 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs104894826
rs104894826
3 0.882 0.080 X 71224114 missense variant T/C snv 0.010 1.000 1 2005 2005