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rs794727980

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727980(-;-)
Make rs794727980(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position197435246
GeneCRB1
is asnp
is mentioned by
dbSNPrs794727980
ebirs794727980
HLIrs794727980
Exacrs794727980
Varsomers794727980
Maprs794727980
PheGenIrs794727980
hapmaprs794727980
1000 genomesrs794727980
hgdprs794727980
ensemblrs794727980
gopubmedrs794727980
geneviewrs794727980
scholarrs794727980
googlers794727980
pharmgkbrs794727980
gwascentralrs794727980
openSNPrs794727980
23andMers794727980
23andMe allrs794727980
SNP Nexus

SNPshotrs794727980
SNPdbers794727980
MSV3drs794727980
GWAS Ctlgrs794727980
Max Magnitude0
ClinVar
Risk rs794727980(;)
Alt rs794727980(;)
Reference rs794727980(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 8 Retinitis pigmentosa 12
Variation info
Gene CRB1
CLNDBN Leber congenital amaurosis 8 Retinitis pigmentosa 12
Reversed 0
HGVS NC_000001.10:g.197404376delT
CLNSRC
CLNACC RCV000180718.1, RCV000180719.1,