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: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.720 1.000 18 1993 2004
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.700 1.000 16 1993 2002
dbSNP: rs104894620
rs104894620
PMP22
2 0.925 0.080 17 15239584 start lost A/G;T snv 0.700 1.000 16 1993 2002
dbSNP: rs104894622
rs104894622
PMP22
3 0.882 0.080 17 15260692 missense variant G/T snv 0.700 1.000 16 1993 2002
dbSNP: rs104894624
rs104894624
PMP22
2 0.925 0.080 17 15230952 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 16 1993 2002
dbSNP: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.800 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: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.810 1.000 13 1993 2003
dbSNP: rs1553259707
rs1553259707
MPZ
4 0.851 0.080 1 161306911 missense variant T/C snv 0.710 1.000 12 1993 2003
dbSNP: rs267607241
rs267607241
MPZ
1 1.000 0.080 1 161306815 missense variant A/G snv 0.700 1.000 12 1993 2003
dbSNP: rs267607242
rs267607242
MPZ
1 1.000 0.080 1 161306810 missense variant T/G snv 0.700 1.000 12 1993 2003
dbSNP: rs267607243
rs267607243
MPZ
2 0.925 0.080 1 161306774 missense variant C/T snv 0.700 1.000 12 1993 2003
dbSNP: rs281865127
rs281865127
MPZ
5 0.827 0.120 1 161306767 missense variant T/C snv 0.700 1.000 12 1993 2003
dbSNP: rs879253858
rs879253858
MPZ
3 0.882 0.120 1 161306753 missense variant T/G snv 0.700 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: rs797045102
rs797045102
PRX
1 1.000 0.080 19 40396063 frameshift variant A/- delins 0.700 1.000 4 2001 2013
dbSNP: rs104894159
rs104894159
EGR2
5 0.827 0.080 10 62813413 missense variant G/A snv 0.030 1.000 3 1999 2005
dbSNP: rs104894161
rs104894161
EGR2
6 0.807 0.080 10 62813563 missense variant G/A snv 0.830 1.000 3 1999 2005
dbSNP: rs281865121
rs281865121
MPZ
2 0.925 0.080 1 161307403 missense variant A/G snv 0.030 1.000 3 2007 2015
dbSNP: rs104894826
rs104894826
GJB1
3 0.882 0.080 X 71224114 missense variant T/C snv 0.800 1.000 1 2005 2005
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: rs121913597
rs121913597
MPZ
5 0.827 0.160 1 161307268 missense variant T/A snv 0.010 1.000 1 2010 2010
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: rs1801274
rs1801274
FCGR2A
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: rs530552002
rs530552002
MAD2L1BP
1 1.000 0.080 6 43636471 missense variant C/T snv 4.0E-06 0.010 1.000 1 1998 1998