rs104894082, RP1

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 1
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
21 0.882 0.080 8 54625911 stop gained C/T snv 0.710 1.000 1 2001 2001
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.882 0.080 8 54625911 stop gained C/T snv 0.030 1.000 3 2003 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 8 54625911 stop gained C/T snv 0.010 1.000 1 2003 2003