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rs137852833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852833(G;G)
Make rs137852833(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88111320
GeneCEP290
is asnp
is mentioned by
dbSNPrs137852833
ebirs137852833
HLIrs137852833
Exacrs137852833
Varsomers137852833
Maprs137852833
PheGenIrs137852833
hapmaprs137852833
1000 genomesrs137852833
hgdprs137852833
ensemblrs137852833
gopubmedrs137852833
geneviewrs137852833
scholarrs137852833
googlers137852833
pharmgkbrs137852833
gwascentralrs137852833
openSNPrs137852833
23andMers137852833
23andMe allrs137852833
SNP Nexus

SNPshotrs137852833
SNPdbers137852833
MSV3drs137852833
GWAS Ctlgrs137852833
Max Magnitude0
OMIM610142
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852833(G;G)
Alt rs137852833(G;G)
Reference rs137852833(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 10
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10
Reversed 1
HGVS NC_000012.11:g.88505097A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001401.2,