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: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs3765524
rs3765524
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.010 1.000 1 2014 2014
dbSNP: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
dbSNP: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.710 1.000 1 2010 2010
dbSNP: rs1800875
rs1800875
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.810 1.000 13 1993 2003
dbSNP: rs1553259648
rs1553259648
MPZ
8 0.776 0.160 1 161306759 missense variant G/C;T snv 0.700 0
dbSNP: rs104894621
rs104894621
9 0.790 0.080 17 15239575 missense variant G/A snv 0.720 1.000 18 1993 2004
dbSNP: rs104894161
rs104894161
6 0.807 0.080 10 62813563 missense variant G/A snv 0.830 1.000 3 1999 2005
dbSNP: rs281865127
rs281865127
MPZ
5 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 12 1993 2003
dbSNP: rs104894159
rs104894159
5 0.827 0.080 10 62813413 missense variant G/A snv 0.030 1.000 3 1999 2005
dbSNP: rs3132468
rs3132468
5 0.827 0.240 6 31507709 intron variant C/T snv 0.77 0.020 0.500 2 2013 2014
dbSNP: rs121913597
rs121913597
MPZ
5 0.827 0.160 1 161307268 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs3740360
rs3740360
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs104894617
rs104894617
4 0.851 0.080 17 15260681 missense variant A/G snv 0.700 1.000 16 1993 2002
dbSNP: rs121913585
rs121913585
MPZ
4 0.851 0.080 1 161307304 missense variant G/A;C snv 0.710 1.000 13 1993 2003
dbSNP: rs121913590
rs121913590
MPZ
5 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.710 1.000 13 1993 2010
dbSNP: rs1553259707
rs1553259707
MPZ
4 0.851 0.080 1 161306911 missense variant T/C snv 0.710 1.000 12 1993 2003
dbSNP: rs104894708
rs104894708
PRX
5 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.710 1.000 5 2001 2016
dbSNP: rs121913601
rs121913601
MPZ
4 0.851 0.080 1 161307259 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs104894622
rs104894622
3 0.882 0.080 17 15260692 missense variant G/T snv 0.700 1.000 16 1993 2002
dbSNP: rs879253954
rs879253954
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.800 1.000 16 1993 2002
dbSNP: rs879253858
rs879253858
MPZ
3 0.882 0.120 1 161306753 missense variant T/G snv 0.700 1.000 12 1993 2003
dbSNP: rs104894826
rs104894826
3 0.882 0.080 X 71224114 missense variant T/C snv 0.800 1.000 1 2005 2005