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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2005 2011
dbSNP: rs121912557
rs121912557
MYO6
4 0.882 0.120 6 75857198 missense variant G/A snv 0.020 1.000 2 2004 2019
dbSNP: rs104894404
rs104894404
GJB2
4 0.882 0.200 13 20189406 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs1131692056
rs1131692056
PRKCB
1 1.000 0.120 16 23988577 missense variant G/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1176235580
rs1176235580
MTO1
3 0.925 0.120 6 73482214 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11920109
rs11920109
GRM7
1 1.000 0.120 3 7170999 intron variant T/C snv 0.35 0.010 1.000 1 2020 2020
dbSNP: rs11928865
rs11928865
GRM7
2 1.000 0.120 3 7114015 intron variant T/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs121908361
rs121908361
SLC26A4
3 0.882 0.160 7 107689156 stop gained A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121909063
rs121909063
TECTA
2 0.925 0.120 11 121168135 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1233562246
rs1233562246
OTOGL
2 0.925 0.120 12 80255055 frameshift variant T/- del 0.010 1.000 1 2012 2012
dbSNP: rs1250745641
rs1250745641
CDH23
1 1.000 0.120 10 71807866 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs1322366495
rs1322366495
PTPRQ ; LOC105369867
1 1.000 0.120 12 80649626 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1323852277
rs1323852277
WFS1
2 0.925 0.120 4 6301903 missense variant G/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1391331735
rs1391331735
MYO15A ; LOC105371566
2 0.925 0.120 17 18126795 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs151344629
rs151344629
NLRP3
4 0.851 0.200 1 247424492 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs267606617
rs267606617
ND1 ; RNR1
1 1.000 0.120 MT 1555 non coding transcript exon variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs3774937
rs3774937
NFKB1
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs387906930
rs387906930
WFS1
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs387906931
rs387906931
WFS1
2 0.925 0.360 4 6302133 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs4648011
rs4648011
NFKB1
1 1.000 0.120 4 102554287 intron variant G/T snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006