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: rs397518013
rs397518013
USH2A ; LOC105372918
0.882 0.200 1 216199890 frameshift variant AT/- delins 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs397518013
rs397518013
USH2A ; LOC105372918
0.882 0.200 1 216199890 frameshift variant AT/- delins 4.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0
dbSNP: rs397518013
rs397518013
USH2A ; LOC105372918
0.882 0.200 1 216199890 frameshift variant AT/- delins 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0