rs200826424, RCBTB1

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.
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
6 0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04 0.700 1.000 1 2016 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04 0.700 1.000 1 2016 2016
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
CUI: C4310880
Disease: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
2 0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04 0.700 0