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: rs457717
rs457717
F2RL2 ; IQGAP2
1 5 76625147 intron variant A/G snv 0.65 0.810 1.000 2 2010 2016
dbSNP: rs111033361
rs111033361
GJB2
1 13 20189355 missense variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs113288603
rs113288603 		1 19 40856388 intron variant C/T snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs1172585670
rs1172585670
ILDR1
1 3 121993482 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1262403457
rs1262403457
NT5E
1 6 85493984 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1269396908
rs1269396908
ESRRB
1 14 76439579 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1316191911
rs1316191911
PJVK
1 2 178461239 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs145913750
rs145913750
TMPRSS3
1 21 42383169 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs1462051345
rs1462051345
COL11A2
1 6 33177678 missense variant C/G snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs1476034902
rs1476034902
GJB2
1 13 20189542 missense variant T/C snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs189971962
rs189971962
GJB6
1 13 20223085 synonymous variant C/T snv 1.8E-04 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs199750760
rs199750760
POLR2F ; SOX10
1 22 37983663 missense variant C/A;T snv 5.7E-04; 5.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs201845656
rs201845656
CIB2
1 15 78111266 stop gained G/A snv 6.0E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2839580
rs2839580
PDE9A ; PDE9A-AS1
1 21 42736981 intron variant T/A;G snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs35225896
rs35225896
MET
1 7 116700032 missense variant A/G snv 1.6E-03 6.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs368854657
rs368854657
CEMIP
1 15 80881078 missense variant C/T snv 3.6E-05 1.4E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs577509855
rs577509855
GJB6
1 13 20223387 stop gained G/A snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs6132107
rs6132107
DTD1
1 20 18726094 intron variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs748345812
rs748345812
MITF
1 3 69879304 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs750795475
rs750795475
GJB2
1 13 20189144 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs751989516
rs751989516
PHC1
2 1.000 12 8932951 synonymous variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs755058488
rs755058488
GJB2
1 13 20189186 synonymous variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs757572880
rs757572880
MITF
1 3 69879267 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs760741667
rs760741667
CRX
1 19 47839399 missense variant A/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs778720579
rs778720579
CIB2
1 15 78109499 stop gained G/A snv 2.4E-05 7.7E-05 0.010 1.000 1 2018 2018