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: rs281865137
rs281865137
EGR2
4 0.851 0.080 10 62813496 missense variant C/T snv 0.710 1.000 7 2000 2014
dbSNP: rs797044845
rs797044845
MPZ
3 0.882 0.080 1 161307311 missense variant C/T snv 0.710 1.000 4 2000 2013
dbSNP: rs104894160
rs104894160
EGR2
2 0.925 0.080 10 62813491 missense variant C/A snv 0.710 1.000 1 2003 2003
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: rs267607538
rs267607538
NEFL
2 0.925 0.120 8 24956451 missense variant G/C;T snv 0.710 1.000 1 2008 2008
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: rs104894161
rs104894161
EGR2
6 0.807 0.080 10 62813563 missense variant G/A snv 0.700 1.000 7 1999 2016
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: 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: 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: rs281865127
rs281865127
MPZ
5 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 6 1996 2018
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 5 1993 2001
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: rs267607247
rs267607247
MPZ
3 0.882 0.120 1 161305953 missense variant C/A snv 0.700 1.000 5 2006 2016
dbSNP: rs281865124
rs281865124
MPZ
2 0.925 0.080 1 161306912 missense variant A/G snv 0.700 1.000 5 1993 2014
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.700 1.000 5 2004 2015
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: rs770546306
rs770546306
MPZ
3 0.882 0.080 1 161307402 missense variant G/A;C;T snv 3.2E-05; 5.2E-05 0.700 1.000 5 1993 2015
dbSNP: rs1553259663
rs1553259663
MPZ
1 1.000 0.080 1 161306824 missense variant G/C snv 0.700 1.000 4 2009 2015
dbSNP: rs1553259790
rs1553259790
MPZ
2 0.925 0.080 1 161307340 missense variant G/A snv 0.700 1.000 4 2001 2014
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.700 1.000 4 1996 2016
dbSNP: rs864622273
rs864622273
EGR2
3 0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 0.700 1.000 4 1998 2016
dbSNP: rs864622732
rs864622732
MPZ
3 0.882 0.120 1 161307386 missense variant T/A;C snv 4.0E-06 0.700 1.000 4 2004 2015