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rs386834155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs386834155(-;-)
Make rs386834155(-;AA)
ReferenceGRCh38 38.1/141
Chromosome12
Position88092695
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834155
ebirs386834155
HLIrs386834155
Exacrs386834155
Varsomers386834155
Maprs386834155
PheGenIrs386834155
hapmaprs386834155
1000 genomesrs386834155
hgdprs386834155
ensemblrs386834155
gopubmedrs386834155
geneviewrs386834155
scholarrs386834155
googlers386834155
pharmgkbrs386834155
gwascentralrs386834155
openSNPrs386834155
23andMers386834155
23andMe allrs386834155
SNP Nexus

SNPshotrs386834155
SNPdbers386834155
MSV3drs386834155
GWAS Ctlgrs386834155
Max Magnitude0
ClinVar
Risk rs386834155(;)
Alt rs386834155(;)
Reference rs386834155(AA;AA)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88486472_88486473delTT
CLNSRC ClinVar
CLNACC RCV000050149.1,


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