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: rs878853410
rs878853410
USH2A
0.925 0.200 1 216321969 frameshift variant A/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs878853410
rs878853410
USH2A
0.925 0.200 1 216321969 frameshift variant A/- del
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2016 2016
dbSNP: rs878853410
rs878853410
USH2A
0.925 0.200 1 216321969 frameshift variant A/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0