Source: ALL

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: rs73090721
rs73090721
USH2A
0.925 0.200 1 215817108 stop gained G/A;T snv 1.1E-03
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs73090721
rs73090721
USH2A
0.925 0.200 1 215817108 stop gained G/A;T snv 1.1E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2012 2017