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: 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: rs797045102
rs797045102
PRX
1 1.000 0.080 19 40396063 frameshift variant A/- delins 0.700 1.000 4 2001 2013
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: 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: 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: 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: 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: 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: 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: 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: rs104894620
rs104894620
PMP22
2 0.925 0.080 17 15239584 start lost A/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: rs267607243
rs267607243
MPZ
2 0.925 0.080 1 161306774 missense variant C/T 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: rs104894622
rs104894622
PMP22
3 0.882 0.080 17 15260692 missense variant G/T snv 0.700 1.000 16 1993 2002
dbSNP: rs879253858
rs879253858
MPZ
3 0.882 0.120 1 161306753 missense variant T/G snv 0.700 1.000 12 1993 2003
dbSNP: rs104894826
rs104894826
GJB1
3 0.882 0.080 X 71224114 missense variant T/C snv 0.800 1.000 1 2005 2005
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: rs863225027
rs863225027
PMP22
3 0.882 0.120 17 15239555 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.700 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