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: rs104894625
rs104894625
PMP22
4 0.851 0.120 17 15260663 missense variant G/A;T snv 0.810 1.000 3 1998 2004
dbSNP: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.800 1.000 3 1998 2004
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.750 1.000 5 1998 2015
dbSNP: rs377335295
rs377335295
PMP22
1 1.000 0.120 17 15259184 missense variant C/G;T snv 2.4E-05; 2.8E-05 0.710 1.000 1 1998 1998
dbSNP: rs587776691
rs587776691
PMP22
1 1.000 0.120 17 15260708 frameshift variant TC/- delins 0.700 0
dbSNP: rs80338763
rs80338763
PMP22
4 0.851 0.200 17 15239509 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs4280262
rs4280262
LITAF
2 0.925 0.120 16 11553636 missense variant T/C snv 0.17 0.16 0.020 1.000 2 2014 2015
dbSNP: rs1250554906
rs1250554906
TNF
1 1.000 0.120 6 31576808 missense variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs281865127
rs281865127
MPZ
5 0.827 0.120 1 161306767 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs863225027
rs863225027
PMP22
3 0.882 0.120 17 15239555 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs879253858
rs879253858
MPZ
3 0.882 0.120 1 161306753 missense variant T/G snv 0.010 1.000 1 1997 1997