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 216196630 stop gained C/A;G snv 7.0E-06 0.700 1.000 2 2007 2015
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.882 0.200 1 216196630 stop gained C/A;G snv 7.0E-06 0.700 1.000 2 2007 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.200 1 216196630 stop gained C/A;G snv 7.0E-06 0.700 0