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: rs9827908
rs9827908
LRIG1
5 1.000 3 66395177 intron variant A/G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs9636436
rs9636436 		5 1.000 2 49270867 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs9501753
rs9501753 		5 1.000 6 221146 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2014 2014
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: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 1998 1998
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: rs864622269
rs864622269
ATL1
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs863225023
rs863225023
HSPB1
3 0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs801378
rs801378 		5 1.000 2 194695273 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs801350
rs801350 		5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
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: rs7985891
rs7985891
GPC6
5 1.000 13 93226778 non coding transcript exon variant A/G snv 3.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs7963521
rs7963521 		1 12 73435176 intergenic variant C/T snv 0.59 0.010 1.000 1 2019 2019
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: rs770272088
rs770272088
HSPB1
4 0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 0.010 1.000 1 2013 2013
dbSNP: rs768947688
rs768947688
CHSY1
1 15 101178712 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2012 2012
dbSNP: rs765672269
rs765672269
IGFALS ; SPSB3
5 0.851 0.120 16 1792338 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7568498
rs7568498
TANK
5 1.000 2 161172602 intron variant T/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs7554182
rs7554182 		5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs748095370
rs748095370
GJB1
1 X 71224215 missense variant G/A snv 2.3E-05 1.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs745836948
rs745836948
LXN ; GFM1
2 1.000 0.040 3 158669595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 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: rs74315511
rs74315511
SCO2 ; NCAPH2
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.010 1.000 1 2001 2001