Source: BEFREE ×
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: rs1045644
rs1045644
COCH ; LOC100506071
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10504361
rs10504361
NKAIN3
1 8 62972541 intron variant G/A snv 0.11 0.010 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: rs137852643
rs137852643
GARS1
1 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
1 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
1 1.000 0.040 7 76302833 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs209709
rs209709 		1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28445017
rs28445017
LTA ; LOC100287329
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs301927
rs301927
EPHA6
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs41268673
rs41268673
SCN9A ; SCN1A-AS1
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4737264
rs4737264
XKR4
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs557327165
rs557327165
HSPB1
1 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: 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: rs768947688
rs768947688
CHSY1
1 15 101178712 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs7963521
rs7963521 		1 12 73435176 intergenic variant C/T snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs104894075
rs104894075
GDAP1
2 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: rs104894077
rs104894077
GDAP1
2 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
2 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs104894707
rs104894707
PRX
2 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: rs104894708
rs104894708
PRX
2 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1060503021
rs1060503021
HSPB1
2 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
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