rs111033367, USH2A

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06 0.700 1.000 5 1998 2010
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2009 2009
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.882 0.200 1 216190280 frameshift variant AG/- delins 4.0E-06 7.0E-06 0.700 0