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: rs28937591
rs28937591
OTOF
1 1.000 0.120 2 26461756 missense variant G/C snv 0.810 1.000 7 1999 2016
dbSNP: rs80356586
rs80356586
OTOF
1 1.000 0.120 2 26482441 missense variant A/G snv 1.6E-05 1.4E-05 0.800 1.000 7 1999 2016
dbSNP: rs80356596
rs80356596
OTOF
1 1.000 0.120 2 26475453 missense variant A/G snv 0.800 1.000 7 1999 2016
dbSNP: rs80356585
rs80356585
OTOF
1 1.000 0.120 2 26482516 missense variant G/A;C;T snv 2.0E-05; 3.6E-05 0.800 1.000 6 1999 2016
dbSNP: rs201329629
rs201329629
OTOF
1 1.000 0.120 2 26476014 missense variant G/A;C;T snv 1.6E-05; 8.1E-06 0.800 1.000 2 2006 2008
dbSNP: rs397515599
rs397515599
OTOF
1 1.000 0.120 2 26473563 missense variant A/G snv 0.800 1.000 2 2006 2008
dbSNP: rs397515606
rs397515606
OTOF
1 1.000 0.120 2 26461845 missense variant A/C snv 0.800 1.000 2 2006 2008
dbSNP: rs397515611
rs397515611
OTOF
1 1.000 0.120 2 26501754 missense variant C/A;G snv 4.0E-06 0.800 1.000 2 2006 2008
dbSNP: rs80356605
rs80356605
OTOF
3 0.882 0.120 2 26460203 missense variant C/G;T snv 4.4E-06; 6.1E-05 0.800 1.000 2 2006 2008
dbSNP: rs80356606
rs80356606
OTOF
1 1.000 0.120 2 26460059 missense variant G/C snv 0.800 1.000 2 2006 2008
dbSNP: rs56054534
rs56054534
OTOF
1 1.000 0.120 2 26473506 missense variant C/T snv 8.1E-03 8.4E-03 0.700 1.000 6 1999 2016
dbSNP: rs80356592
rs80356592
OTOF
1 1.000 0.120 2 26477441 missense variant C/A;T snv 1.1E-03 0.700 1.000 6 1999 2016
dbSNP: rs199766465
rs199766465
OTOF
3 0.882 0.120 2 26463969 missense variant C/G;T snv 5.1E-04 0.700 1.000 4 2010 2018
dbSNP: rs201613240
rs201613240
OTOF
1 1.000 0.120 2 26473569 splice acceptor variant T/G snv 4.2E-06 0.700 1.000 2 2006 2016
dbSNP: rs80356593
rs80356593
OTOF
2 0.925 0.120 2 26477210 stop gained G/A snv 1.7E-04 3.5E-05 0.700 1.000 2 2002 2003
dbSNP: rs111033405
rs111033405
OTOF
4 0.851 0.160 2 26465753 missense variant A/G snv 4.0E-05 2.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs186810296
rs186810296
OTOF
1 1.000 0.120 2 26470592 splice donor variant C/A;T snv 9.0E-04 0.700 1.000 1 2011 2011
dbSNP: rs397515597
rs397515597
OTOF
1 1.000 0.120 2 26475927 frameshift variant CT/- delins 0.700 1.000 1 2010 2010
dbSNP: rs397515603
rs397515603
OTOF
1 1.000 0.120 2 26465010 missense variant G/A snv 5.8E-06 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs397515607
rs397515607
OTOF
1 1.000 0.120 2 26461817 inframe deletion TCC/- delins 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs797044816
rs797044816
OTOF
1 1.000 0.120 2 26466746 frameshift variant -/G delins 0.700 1.000 1 2014 2014
dbSNP: rs1060499805
rs1060499805
OTOF
1 1.000 0.120 2 26468468 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs111033349
rs111033349
OTOF
1 1.000 0.120 2 26461854 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs111033373
rs111033373
OTOF
1 1.000 0.120 2 26462182 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1207102900
rs1207102900
OTOF
2 1.000 0.120 2 26460027 stop lost A/G snv 0.700 0