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: rs199766465
rs199766465
OTOF
3 0.882 0.120 2 26463969 missense variant C/G;T snv 5.1E-04 0.020 1.000 2 2010 2018
dbSNP: rs201326023
rs201326023
OTOF
4 0.882 0.120 2 26458218 missense variant C/T snv 4.3E-05 1.4E-05 0.020 1.000 2 2012 2018
dbSNP: rs80356605
rs80356605
OTOF
3 0.882 0.120 2 26460203 missense variant C/G;T snv 4.4E-06; 6.1E-05 0.020 1.000 2 2012 2018
dbSNP: rs111706634
rs111706634
PJVK
4 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs118203988
rs118203988
PJVK
3 0.882 0.120 2 178453570 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs1373232834
rs1373232834
PCDH15
1 1.000 0.120 10 53822982 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1459288526
rs1459288526
OTOF
1 1.000 0.120 2 26464073 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs184474885
rs184474885
AIFM1 ; RAB33A
2 0.925 0.160 X 130137123 missense variant G/A snv 1.9E-04 3.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs35725509
rs35725509
TMTC2
2 0.925 0.120 12 82896304 missense variant G/A snv 1.0E-02 6.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs35887622
rs35887622
GJB2
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.010 1.000 1 2008 2008
dbSNP: rs397515582
rs397515582
OTOF
2 0.925 0.120 2 26483581 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs757377176
rs757377176
PCDH15
1 1.000 0.120 10 53822631 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766819324
rs766819324
OTOF
2 0.925 0.120 2 26474609 stop gained G/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs773429181
rs773429181
OTOF
2 0.925 0.120 2 26477730 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs773985815
rs773985815
OTOF
1 1.000 0.120 2 26480887 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs863225431
rs863225431
AIFM1 ; RAB33A
2 0.925 0.160 X 130133409 missense variant C/T snv 0.010 1.000 1 2015 2015