Gene: CDH23 ×
Source: CLINVAR ×
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: rs121908354
rs121908354
CDH23
2 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.710 1.000 0 2015 2015
dbSNP: rs1060499791
rs1060499791
CDH23
2 1.000 0.120 10 71617295 missense variant C/T snv 0.700 0
dbSNP: rs1264310782
rs1264310782
CDH23
2 1.000 0.120 10 71799579 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1344509500
rs1344509500
CDH23
2 1.000 0.120 10 71810017 stop gained G/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1390562340
rs1390562340
CDH23
2 1.000 0.120 10 71682520 missense variant A/G snv 0.700 0
dbSNP: rs1554871816
rs1554871816
CDH23
2 1.000 0.120 10 71777711 missense variant A/C snv 0.700 0
dbSNP: rs1554874879
rs1554874879
CDH23
2 1.000 0.120 10 71793594 frameshift variant C/- delins 0.700 0
dbSNP: rs1554874900
rs1554874900
CDH23
2 1.000 0.120 10 71793641 splice donor variant G/A snv 0.700 0
dbSNP: rs1554877797
rs1554877797
CDH23
2 1.000 0.120 10 71811365 frameshift variant G/- delins 0.700 0
dbSNP: rs1564759653
rs1564759653
CDH23 ; C10orf105
2 1.000 0.120 10 71725521 splice donor variant G/A snv 0.700 0
dbSNP: rs1564791773
rs1564791773
CDH23
2 1.000 0.120 10 71784286 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1564795354
rs1564795354
CDH23 ; MIR7152
2 1.000 0.120 10 71791147 frameshift variant -/TCAG delins 0.700 0
dbSNP: rs750880909
rs750880909
CDH23 ; MIR7152
2 1.000 0.120 10 71791167 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs756147087
rs756147087
CDH23
2 1.000 0.120 10 71705043 missense variant G/A snv 3.2E-05 9.1E-05 0.700 0
dbSNP: rs758382198
rs758382198
CDH23
2 1.000 0.120 10 71778268 missense variant A/C;T snv 0.700 0