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: 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: 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: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.800 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: 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: rs863225027
rs863225027
PMP22
3 0.882 0.120 17 15239555 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.720 1.000 18 1993 2004
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: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G 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: rs1553259568
rs1553259568
MPZ
1 1.000 0.080 1 161306355 frameshift variant C/- delins 0.700 0
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: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.700 0
dbSNP: rs879253858
rs879253858
MPZ
3 0.882 0.120 1 161306753 missense variant T/G snv 0.700 1.000 12 1993 2003
dbSNP: rs1553259648
rs1553259648
MPZ
8 0.776 0.160 1 161306759 missense variant G/C;T snv 0.700 0
dbSNP: rs281865127
rs281865127
MPZ
5 0.827 0.120 1 161306767 missense variant T/C 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: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.710 1.000 1 2010 2010
dbSNP: rs267607242
rs267607242
MPZ
1 1.000 0.080 1 161306810 missense variant T/G snv 0.700 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: 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: rs1553259707
rs1553259707
MPZ
4 0.851 0.080 1 161306911 missense variant T/C snv 0.710 1.000 12 1993 2003
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: rs121913597
rs121913597
MPZ
5 0.827 0.160 1 161307268 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs121913585
rs121913585
MPZ
4 0.851 0.080 1 161307304 missense variant G/A;C snv 0.710 1.000 13 1993 2003