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rs386834148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs386834148(-;-)
Make rs386834148(-;AT)
ReferenceGRCh38 38.1/141
Chromosome12
Position88121136
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834148
ebirs386834148
HLIrs386834148
Exacrs386834148
Varsomers386834148
Maprs386834148
PheGenIrs386834148
hapmaprs386834148
1000 genomesrs386834148
hgdprs386834148
ensemblrs386834148
gopubmedrs386834148
geneviewrs386834148
scholarrs386834148
googlers386834148
pharmgkbrs386834148
gwascentralrs386834148
openSNPrs386834148
23andMers386834148
23andMe allrs386834148
SNP Nexus

SNPshotrs386834148
SNPdbers386834148
MSV3drs386834148
GWAS Ctlgrs386834148
Max Magnitude0
ClinVar
Risk rs386834148(;)
Alt rs386834148(;)
Reference rs386834148(AT;AT)
Significance Pathogenic
Disease Meckel syndrome type 4 Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4 Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88514913_88514914delAT
CLNSRC ClinVar
CLNACC RCV000050142.1, RCV000201718.1,


[PMID 17564974OA-icon.png] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.


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