rs104894927, RP2

N. diseases: 4
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 2 (disorder)
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
6 0.882 0.080 X 46853731 stop gained C/T snv 0.720 0.750 4 1999 2018
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 1999 1999
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 2019 2019
X-linked retinitis pigmentosa
CUI: C0339528
Disease: X-linked retinitis pigmentosa
7 0.882 0.080 X 46853731 stop gained C/T snv 0.010 1.000 1 2001 2001