Gene: CDH23-AS1 ×
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: rs397517328
rs397517328
CDH23 ; CDH23-AS1
1 1.000 0.080 10 71511216 splice region variant G/A snv 1.5E-03 3.1E-04 0.700 1.000 1 2019 2019