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rs386834159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834159(-;-)
Make rs386834159(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88071786
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834159
ebirs386834159
HLIrs386834159
Exacrs386834159
Varsomers386834159
Maprs386834159
PheGenIrs386834159
hapmaprs386834159
1000 genomesrs386834159
hgdprs386834159
ensemblrs386834159
gopubmedrs386834159
geneviewrs386834159
scholarrs386834159
googlers386834159
pharmgkbrs386834159
gwascentralrs386834159
openSNPrs386834159
23andMers386834159
23andMe allrs386834159
SNP Nexus

SNPshotrs386834159
SNPdbers386834159
MSV3drs386834159
GWAS Ctlgrs386834159
Max Magnitude0
ClinVar
Risk rs386834159(;)
Alt rs386834159(;)
Reference rs386834159(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88465563delA
CLNSRC ClinVar
CLNACC RCV000050153.1,


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