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: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 3 1998 2016
dbSNP: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2000 2016
dbSNP: rs111033273
rs111033273
USH2A
0.882 0.200 1 216321921 missense variant A/G snv 2.4E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019