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: rs41308425
rs41308425
USH2A
0.925 0.200 1 215837990 splice donor variant C/G snv 1.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs41308425
rs41308425
USH2A
0.925 0.200 1 215837990 splice donor variant C/G snv 1.6E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs41308425
rs41308425
USH2A
0.925 0.200 1 215837990 splice donor variant C/G snv 1.6E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0