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: rs1564634581
rs1564634581
PDZD7
1.000 0.200 10 101019134 frameshift variant T/- del
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs587776894
rs587776894
PDZD7 ; SFXN3
0.925 0.200 10 101030053 frameshift variant -/G delins 6.3E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0