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rs137852832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852832(G;T)
Make rs137852832(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88077263
GeneCEP290
is asnp
is mentioned by
dbSNPrs137852832
ClinGenrs137852832
ebirs137852832
HLIrs137852832
Exacrs137852832
Varsomers137852832
Maprs137852832
PheGenIrs137852832
hapmaprs137852832
1000 genomesrs137852832
hgdprs137852832
ensemblrs137852832
gopubmedrs137852832
geneviewrs137852832
scholarrs137852832
googlers137852832
pharmgkbrs137852832
gwascentralrs137852832
openSNPrs137852832
23andMers137852832
23andMe allrs137852832
SNP Nexus

SNPshotrs137852832
SNPdbers137852832
MSV3drs137852832
GWAS Ctlgrs137852832
Max Magnitude0
OMIM610142
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852832(T;T)
Alt rs137852832(T;T)
Reference Rs137852832(G;G)
Significance Pathogenic
Disease Joubert syndrome 5 not provided Meckel-Gruber syndrome Leber congenital amaurosis 10
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5 not provided Meckel-Gruber syndrome Leber congenital amaurosis 10
Reversed 1
HGVS NC_000012.11:g.88471040C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001396.5, RCV000086298.1, RCV000114202.1, RCV000152972.3,