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: 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: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
dbSNP: rs1553259568
rs1553259568
MPZ
1 1.000 0.080 1 161306355 frameshift variant C/- delins 0.700 0
dbSNP: rs1553259648
rs1553259648
MPZ
8 0.776 0.160 1 161306759 missense variant G/C;T snv 0.700 0
dbSNP: rs1555801290
rs1555801290
PRX
1 1.000 0.080 19 40397340 frameshift variant C/- delins 0.700 0
dbSNP: rs28936682
rs28936682
PMP22
1 1.000 0.080 17 15230931 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
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: rs775019409
rs775019409
PMP22
1 1.000 0.080 17 15230953 missense variant G/A;T snv 8.0E-06 0.710 1.000 1 2000 2000
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: rs10425452
rs10425452
PRX
1 1.000 0.080 19 40397853 missense variant G/A snv 1.6E-04 6.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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: rs765108575
rs765108575
MAD2L1BP
1 1.000 0.080 6 43636483 missense variant G/A snv 4.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs770546306
rs770546306
MPZ
3 0.882 0.080 1 161307402 missense variant G/A;C;T snv 3.2E-05; 5.2E-05 0.010 1.000 1 2015 2015
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: rs863225027
rs863225027
PMP22
3 0.882 0.120 17 15239555 missense variant A/T snv 0.010 1.000 1 2011 2011
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