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: rs281865138
rs281865138
EGR2
1 1.000 0.080 10 62813492 missense variant A/C snv 0.700 0
dbSNP: rs281865139
rs281865139
EGR2
2 0.925 0.080 10 62813478 missense variant G/T snv 0.700 0
dbSNP: rs281865140
rs281865140
NEFL ; MIR6841
2 0.925 0.080 8 24955515 missense variant T/C;G snv 0.700 0
dbSNP: rs28928910
rs28928910
NEFL
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.700 0
dbSNP: rs59101996
rs59101996
NEFL
2 0.925 0.080 8 24956070 missense variant G/A snv 0.700 0
dbSNP: rs61491953
rs61491953
NEFL
2 0.925 0.080 8 24956493 missense variant G/A;C;T snv 0.700 0
dbSNP: rs751448371
rs751448371
EGR2
1 1.000 0.080 10 62813572 missense variant C/G;T snv 0.700 0
dbSNP: rs786204215
rs786204215
MPZ
1 1.000 0.080 1 161306842 missense variant G/A snv 0.700 0
dbSNP: rs80338763
rs80338763
PMP22
4 0.851 0.200 17 15239509 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs863224449
rs863224449
MPZ
1 1.000 0.080 1 161306737 missense variant G/A;C snv 0.700 0
dbSNP: rs864622180
rs864622180
PMP22
2 0.925 0.080 17 15259134 frameshift variant G/- delins 0.700 0
dbSNP: rs864622678
rs864622678
PMP22
1 1.000 0.080 17 15239509 frameshift variant CC/A delins 0.700 0
dbSNP: rs879254109
rs879254109
MPZ
2 0.925 0.080 1 161307302 inframe deletion GAG/- delins 0.700 0
dbSNP: rs906563423
rs906563423
PMP22
2 0.925 0.160 17 15260660 missense variant G/A;C;T snv 2.5E-05 0.700 0
dbSNP: rs121913583
rs121913583
MPZ
2 0.925 0.080 1 161306870 missense variant T/C snv 0.700 1.000 1 1993 1993
dbSNP: rs1553259566
rs1553259566
MPZ
1 1.000 0.080 1 161306349 frameshift variant -/CTGC delins 0.700 1.000 2 1994 1998
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.710 1.000 1 2000 2000
dbSNP: rs1567704791
rs1567704791
PMP22
1 1.000 0.080 17 15239528 frameshift variant AG/- delins 0.700 1.000 1 2000 2000
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 5 1993 2001
dbSNP: rs121913600
rs121913600
MPZ
2 0.925 0.080 1 161306848 missense variant C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs104894160
rs104894160
EGR2
2 0.925 0.080 10 62813491 missense variant C/A snv 0.710 1.000 1 2003 2003
dbSNP: rs1407955132
rs1407955132
MPZ
1 1.000 0.080 1 161306707 splice donor variant C/A snv 0.700 1.000 1 2004 2004
dbSNP: rs755446743
rs755446743
MPZ
1 1.000 0.080 1 161305915 inframe deletion TCT/- delins 3.6E-05 7.0E-06 0.700 1.000 2 2002 2005
dbSNP: rs121913601
rs121913601
MPZ
4 0.851 0.080 1 161307259 missense variant G/A;C snv 0.700 1.000 5 1994 2008