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: rs754768875
rs754768875
USH2A ; LOC102723833
0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2008 2016
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs754768875
rs754768875
USH2A ; LOC102723833
0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2019 2019