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: rs111033270
rs111033270
CDH23
4 0.851 0.200 10 71779316 missense variant G/A snv 6.8E-05 1.6E-04 0.800 1.000 6 2001 2011
dbSNP: rs121908347
rs121908347
CDH23 ; C10orf105
1 1.000 0.200 10 71739772 missense variant G/C snv 0.800 1.000 6 2001 2011
dbSNP: rs183431253
rs183431253
CDH23 ; MIR7152
3 0.882 0.200 10 71790413 missense variant G/A snv 2.9E-05 1.4E-05 0.800 1.000 1 2011 2011
dbSNP: rs121908353
rs121908353
CDH23
1 1.000 0.200 10 71812822 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 7 2001 2011
dbSNP: rs111033260
rs111033260
PCDH15
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.700 1.000 5 2003 2015
dbSNP: rs143282422
rs143282422
CDH23
1 1.000 0.200 10 71617355 missense variant G/A snv 7.3E-03 6.7E-03 0.700 1.000 5 2001 2008
dbSNP: rs181255269
rs181255269
CDH23
2 0.925 0.200 10 71694233 missense variant C/T snv 2.2E-03 8.8E-04 0.700 1.000 5 2001 2008
dbSNP: rs201076440
rs201076440
CDH23
1 1.000 0.200 10 71807518 missense variant G/A snv 3.9E-04 3.8E-04 0.700 1.000 5 2001 2008
dbSNP: rs368487578
rs368487578
CDH23 ; C10orf105
1 1.000 0.200 10 71712712 missense variant G/A;C;T snv 2.4E-05; 8.1E-06 0.700 1.000 5 2001 2008
dbSNP: rs373480195
rs373480195
CDH23
1 1.000 0.200 10 71740853 missense variant G/A snv 6.8E-05 9.8E-05 0.700 1.000 5 2001 2008
dbSNP: rs397517344
rs397517344
CDH23
1 1.000 0.200 10 71785652 missense variant C/A;T snv 2.6E-05 0.700 1.000 5 2001 2008
dbSNP: rs41281310
rs41281310
CDH23 ; C10orf105
1 1.000 0.200 10 71712737 missense variant A/G snv 2.3E-03 2.5E-03 0.700 1.000 5 2001 2008
dbSNP: rs41281314
rs41281314
CDH23 ; C10orf105
1 1.000 0.200 10 71730514 missense variant A/G snv 1.1E-02 4.5E-02 0.700 1.000 5 2001 2008
dbSNP: rs760130862
rs760130862
CDH23
1 1.000 0.200 10 71807704 missense variant C/G;T snv 4.1E-06; 1.6E-05 0.700 1.000 5 2001 2008
dbSNP: rs781406146
rs781406146
CDH23
1 1.000 0.200 10 71803004 missense variant C/T snv 0.700 1.000 5 2001 2008
dbSNP: rs769433759
rs769433759
CDH23
1 1.000 0.200 10 71694260 splice donor variant G/A snv 2.0E-05 1.4E-05 0.700 1.000 2 2002 2013
dbSNP: rs140884994
rs140884994
CDH23
1 1.000 0.200 10 71812781 missense variant G/A snv 2.8E-04 2.5E-04 0.700 1.000 1 2011 2011
dbSNP: rs754391973
rs754391973
PCDH15
2 0.925 0.200 10 53961790 stop gained G/A;C snv 1.6E-05; 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs1060499714
rs1060499714
CDH23
1 1.000 0.200 10 71687646 splice acceptor variant G/A snv 0.700 0
dbSNP: rs121908350
rs121908350
CDH23 ; C10orf105
1 1.000 0.200 10 71732151 stop gained C/T snv 0.700 0
dbSNP: rs1253419936
rs1253419936
CDH23 ; C10orf105
1 1.000 0.200 10 71724102 frameshift variant -/A delins 6.2E-06 0.700 0
dbSNP: rs1554857840
rs1554857840
CDH23
1 1.000 0.200 10 71702034 missense variant G/A snv 0.700 0
dbSNP: rs1554877007
rs1554877007
CDH23
1 1.000 0.200 10 71807337 frameshift variant G/- del 0.700 0
dbSNP: rs1564794944
rs1564794944
CDH23 ; MIR7152
1 1.000 0.200 10 71790364 stop gained C/A snv 0.700 0
dbSNP: rs1564796487
rs1564796487
CDH23
1 1.000 0.200 10 71793212 frameshift variant -/T delins 0.700 0