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: rs7818688
rs7818688
NDUFAF6
3 1.000 0.120 8 95011854 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6637197
rs6637197 		5 1.000 X 144281548 intergenic variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7349683
rs7349683
EPHA5
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.020 1.000 2 2013 2019
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12722486
rs12722486
IL2RA
5 1.000 10 6061799 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs587777383
rs587777383
ACTG2
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs730880031
rs730880031
CHCHD10 ; LOC107985577
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs875858
rs875858
VAC14
3 1.000 0.080 16 70741552 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs1045644
rs1045644
COCH ; LOC100506071
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs557327165
rs557327165
HSPB1
3 0.925 0.080 7 76302828 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs62109459
rs62109459
HSPB6 ; PROSER3
1 19 35756909 missense variant C/G;T snv 1.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs74401238
rs74401238
SCN9A ; SCN1A-AS1
1 2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505
MAPK14
7 0.807 0.240 6 36030611 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs57105105
rs57105105
NEFL ; MIR6841
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.720 1.000 2 2015 2016
dbSNP: rs104894077
rs104894077
GDAP1
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs104894078
rs104894078
GDAP1
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11073752
rs11073752
NTRK3
2 1.000 0.080 15 87879820 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs1159057
rs1159057 		1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs12137595
rs12137595 		5 0.851 0.080 1 4034008 regulatory region variant C/T snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1249144069
rs1249144069
PITRM1 ; PITRM1-AS1
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018