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rs386834153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834153(G;T)
Make rs386834153(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88139153
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834153
ebirs386834153
HLIrs386834153
Exacrs386834153
Varsomers386834153
Maprs386834153
PheGenIrs386834153
hapmaprs386834153
1000 genomesrs386834153
hgdprs386834153
ensemblrs386834153
gopubmedrs386834153
geneviewrs386834153
scholarrs386834153
googlers386834153
pharmgkbrs386834153
gwascentralrs386834153
openSNPrs386834153
23andMers386834153
23andMe allrs386834153
SNP Nexus

SNPshotrs386834153
SNPdbers386834153
MSV3drs386834153
GWAS Ctlgrs386834153
Max Magnitude0
ClinVar
Risk rs386834153(T;T)
Alt rs386834153(T;T)
Reference rs386834153(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88532930C>A
CLNSRC ClinVar
CLNACC RCV000050147.1,


[PMID 19466712OA-icon.png] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?