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: rs1037610094
rs1037610094
ADRA1A
1 1.000 0.080 8 26864491 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.020 1.000 2 2003 2011
dbSNP: rs104894077
rs104894077
GDAP1
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.020 1.000 2 2010 2017
dbSNP: rs104894078
rs104894078
GDAP1
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.720 1.000 2 2010 2015
dbSNP: rs104894080
rs104894080
GDAP1
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894159
rs104894159
EGR2
5 0.827 0.080 10 62813413 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894161
rs104894161
EGR2
6 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
6 0.827 0.080 12 119187080 missense variant G/C;T snv 0.720 1.000 2 2006 2017
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.710 1.000 1 2006 2006
dbSNP: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.040 1.000 4 2003 2011
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
dbSNP: rs104894623
rs104894623
PMP22
4 0.851 0.200 17 15239591 missense variant C/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894706
rs104894706
PRX
2 0.925 0.080 19 40397766 stop gained G/A;C;T snv 0.010 1.000 1 2001 2001
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs104894814
rs104894814
GJB1
2 0.925 0.080 X 71224365 stop gained C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894822
rs104894822
GJB1
2 0.925 0.080 X 71224321 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs104894826
rs104894826
GJB1
3 0.882 0.080 X 71224114 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.020 1.000 2 2003 2008
dbSNP: rs1060503021
rs1060503021
HSPB1
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1131691282
rs1131691282
GDAP1
1 1.000 0.080 8 74361935 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs113994102
rs113994102
CTDP1
2 0.925 0.160 18 79710825 intron variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1176654400
rs1176654400
HK1
2 0.925 0.080 10 69359951 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1179887323
rs1179887323
AARS2 ; TMEM151B
1 1.000 0.080 6 44307303 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012