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: 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: 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: rs1250745641
rs1250745641
CDH23
1 1.000 0.120 10 71807866 missense variant G/A snv 0.010 1.000 1 2005 2005
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: rs190166486
rs190166486
PTPRQ
1 1.000 0.120 12 80539915 missense variant A/G snv 1.6E-04 6.3E-05 0.010 1.000 1 2015 2015
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: 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: rs61736451
rs61736451
ATP2B2
1 1.000 0.120 3 10359892 missense variant C/A;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs745927136
rs745927136
SLC9A1
1 1.000 0.120 1 27102734 missense variant G/A snv 4.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs761976067
rs761976067
WFS1
1 1.000 0.120 4 6301377 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762356974
rs762356974
DIAPH1
1 1.000 0.120 5 141573742 missense variant G/A;C;T snv 1.6E-05; 2.2E-05; 2.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs775146972
rs775146972
DIAPH1
1 1.000 0.120 5 141573787 missense variant G/A;C snv 6.8E-06 0.010 1.000 1 2008 2008
dbSNP: rs1348505504
rs1348505504
GIPC3
1 1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06 0.700 0
dbSNP: rs745434198
rs745434198
COL11A2
1 1.000 0.120 6 33165983 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs763320093
rs763320093
LMX1A ; LMX1A-AS2
1 1.000 0.120 1 165203923 missense variant A/G snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs10258719
rs10258719
ATP6V0A4
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs111033196
rs111033196
GJB2
2 1.000 0.120 13 20189202 missense variant C/A;T snv 2.8E-04; 1.4E-02 0.010 1.000 1 2003 2003
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: 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: rs1291519904
rs1291519904
GJB2
2 0.925 0.120 13 20189325 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
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: rs142668478
rs142668478
WFS1
2 0.925 0.120 4 6301849 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs28937893
rs28937893
WFS1
2 0.925 0.120 4 6301941 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002