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rs137852834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852834(A;T)
Make rs137852834(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88083936
GeneCEP290
is asnp
is mentioned by
dbSNPrs137852834
ebirs137852834
HLIrs137852834
Exacrs137852834
Varsomers137852834
Maprs137852834
PheGenIrs137852834
hapmaprs137852834
1000 genomesrs137852834
hgdprs137852834
ensemblrs137852834
gopubmedrs137852834
geneviewrs137852834
scholarrs137852834
googlers137852834
pharmgkbrs137852834
gwascentralrs137852834
openSNPrs137852834
23andMers137852834
23andMe allrs137852834
SNP Nexus

SNPshotrs137852834
SNPdbers137852834
MSV3drs137852834
GWAS Ctlgrs137852834
Max Magnitude0
OMIM610142
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852834(T;T)
Alt rs137852834(T;T)
Reference rs137852834(A;A)
Significance Pathogenic
Disease Joubert syndrome 5 Leber congenital amaurosis 10
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5 Leber congenital amaurosis 10
Reversed 1
HGVS NC_000012.11:g.88477713T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001402.3, RCV000001403.2,