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: rs11017056
rs11017056
C10orf143
3 1.000 0.080 10 130032376 intron variant A/C;T snv 0.21 0.700 1.000 1 2016 2016
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: rs11076161
rs11076161
MT1A
2 1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 0.010 1.000 1 2008 2008
dbSNP: rs11085721
rs11085721
DNMT1
2 1.000 0.120 19 10207300 intron variant G/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs11154178
rs11154178
TRDN ; LOC105377982
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1159057
rs1159057 		1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs116840817
rs116840817
GJB1
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
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: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121909113
rs121909113
HSPB1
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
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: 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
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12722486
rs12722486
IL2RA
5 1.000 10 6061799 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs12786200
rs12786200
FAT3
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs1330950
rs1330950
LINC00551
5 1.000 13 106686453 intron variant C/A snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs13417783
rs13417783 		3 0.925 0.120 2 166773339 regulatory region variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs137852643
rs137852643
GARS1
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs138382758
rs138382758
MFN2
2 1.000 0.080 1 12004835 missense variant G/A snv 2.1E-03 2.5E-03 0.010 1.000 1 2010 2010
dbSNP: rs1393404971
rs1393404971
HSPB1
2 1.000 0.040 7 76302833 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2012 2012
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
4 0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 0.010 1.000 1 2009 2009