rs35818432, USH2A

N. diseases: 2
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, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.925 0.200 1 216292352 missense variant G/C snv 1.3E-03 7.8E-04 0.700 1.000 20 1998 2013
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.200 1 216292352 missense variant G/C snv 1.3E-03 7.8E-04 0.700 0