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: rs797045102
rs797045102
PRX
1 1.000 0.080 19 40396063 frameshift variant A/- delins 0.700 1.000 4 2001 2013
dbSNP: rs3740360
rs3740360
PLCE1
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: 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: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.700 1.000 16 1993 2002
dbSNP: rs267607241
rs267607241
MPZ
1 1.000 0.080 1 161306815 missense variant A/G snv 0.700 1.000 12 1993 2003
dbSNP: rs281865121
rs281865121
MPZ
2 0.925 0.080 1 161307403 missense variant A/G snv 0.030 1.000 3 2007 2015
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: rs863225027
rs863225027
PMP22
3 0.882 0.120 17 15239555 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.700 0
dbSNP: rs1553259568
rs1553259568
MPZ
1 1.000 0.080 1 161306355 frameshift variant C/- delins 0.700 0
dbSNP: rs1555801290
rs1555801290
PRX
1 1.000 0.080 19 40397340 frameshift variant C/- delins 0.700 0
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: rs121913586
rs121913586
MPZ
10 0.752 0.200 1 161306414 missense variant C/G;T snv 0.810 1.000 13 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: rs3132468
rs3132468
MICB
5 0.827 0.240 6 31507709 intron variant C/T snv 0.77 0.020 0.500 2 2013 2014
dbSNP: rs1800875
rs1800875
CMA1
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.010 1.000 1 2014 2014
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
dbSNP: rs753586692
rs753586692
IL4R
1 1.000 0.080 16 27352579 missense variant C/T snv 5.2E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs778831944
rs778831944
OGG1 ; CAMK1
1 1.000 0.080 3 9765848 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs754521978
rs754521978
PRX
1 1.000 0.080 19 40395565 frameshift variant G/- delins 9.9E-05 7.0E-06 0.700 1.000 1 2001 2001
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.720 1.000 18 1993 2004
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: 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