Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517328
rs397517328
CDH23 ; CDH23-AS1
1.000 0.080 10 71511216 splice region variant G/A snv 1.5E-03 3.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs796051861
rs796051861
CDH23 ; CDH23-AS1
0.882 0.200 10 71510125 frameshift variant C/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 1.000 1 2005 2005
dbSNP: rs796051861
rs796051861
CDH23 ; CDH23-AS1
0.882 0.200 10 71510125 frameshift variant C/- delins
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		0.700 0
dbSNP: rs796051861
rs796051861
CDH23 ; CDH23-AS1
0.882 0.200 10 71510125 frameshift variant C/- delins
CUI: C3276419
Disease: USHER SYNDROME, TYPE ID/F, DIGENIC
USHER SYNDROME, TYPE ID/F, DIGENIC 		0.700 0
dbSNP: rs876657754
rs876657754
CDH23 ; CDH23-AS1
1.000 0.200 10 71511163 missense variant A/G snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0