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: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.700 0
dbSNP: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.020 1.000 2 2004 2004
dbSNP: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1244845760
rs1244845760
KIF1B
1 1.000 0.080 1 10295763 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1430414164
rs1430414164
MAD2L1BP
1 1.000 0.080 6 43636404 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs281865137
rs281865137
EGR2
4 0.851 0.080 10 62813496 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs74315521
rs74315521
POLR2F ; SOX10
3 0.882 0.120 22 37974148 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs757078088
rs757078088
EGR2
1 1.000 0.080 10 62815875 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs797044845
rs797044845
MPZ
3 0.882 0.080 1 161307311 missense variant C/T snv 0.010 1.000 1 2013 2013