rs751111524, 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.
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.882 0.200 1 215813906 splice acceptor variant T/C snv 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.882 0.200 1 215813906 splice acceptor variant T/C snv 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.200 1 215813906 splice acceptor variant T/C snv 1.2E-05 2.8E-05 0.700 0