Source: ALL
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: 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 0.700 1.000 7 1998 2015
dbSNP: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
dbSNP: rs1553259648
rs1553259648
MPZ
8 0.776 0.160 1 161306759 missense variant G/C;T snv 0.700 1.000 2 2011 2015
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 5 1993 2001
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.700 0
dbSNP: rs104894161
rs104894161
EGR2
6 0.807 0.080 10 62813563 missense variant G/A snv 0.700 1.000 7 1999 2016
dbSNP: rs121913589
rs121913589
MPZ
7 0.827 0.200 1 161306863 missense variant C/A;G;T snv 0.700 1.000 6 1993 2010
dbSNP: rs281865127
rs281865127
MPZ
5 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 6 1996 2018
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.710 1.000 1 2000 2000
dbSNP: rs104894159
rs104894159
EGR2
5 0.827 0.080 10 62813413 missense variant G/A snv 0.700 0
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.700 0
dbSNP: rs28928910
rs28928910
NEFL
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.700 1.000 10 1983 2015
dbSNP: rs1553259707
rs1553259707
MPZ
4 0.851 0.080 1 161306911 missense variant T/C snv 0.700 1.000 8 1993 2015
dbSNP: rs281865137
rs281865137
EGR2
4 0.851 0.080 10 62813496 missense variant C/T snv 0.710 1.000 7 2000 2014
dbSNP: rs121913590
rs121913590
MPZ
5 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.700 1.000 6 1996 2012
dbSNP: rs121913598
rs121913598
MPZ
5 0.851 0.080 1 161307361 missense variant G/A snv 0.700 1.000 5 1998 2017
dbSNP: rs121913601
rs121913601
MPZ
4 0.851 0.080 1 161307259 missense variant G/A;C snv 0.700 1.000 5 1994 2008
dbSNP: rs572010627
rs572010627
MPZ
4 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs121913585
rs121913585
MPZ
4 0.851 0.080 1 161307304 missense variant G/A;C snv 0.700 1.000 3 1993 2010
dbSNP: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.700 0
dbSNP: rs104894625
rs104894625
PMP22
4 0.851 0.120 17 15260663 missense variant G/A;T snv 0.700 0
dbSNP: rs121913596
rs121913596
MPZ
4 0.851 0.080 1 161307389 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs80338763
rs80338763
PMP22
4 0.851 0.200 17 15239509 frameshift variant C/-;CC delins 0.700 0