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rs386834151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs386834151(-;-)
Make rs386834151(-;AA)
ReferenceGRCh38 38.1/141
Chromosome12
Position88115146
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834151
ebirs386834151
HLIrs386834151
Exacrs386834151
Varsomers386834151
Maprs386834151
PheGenIrs386834151
hapmaprs386834151
1000 genomesrs386834151
hgdprs386834151
ensemblrs386834151
gopubmedrs386834151
geneviewrs386834151
scholarrs386834151
googlers386834151
pharmgkbrs386834151
gwascentralrs386834151
openSNPrs386834151
23andMers386834151
23andMe allrs386834151
SNP Nexus

SNPshotrs386834151
SNPdbers386834151
MSV3drs386834151
GWAS Ctlgrs386834151
Max Magnitude0
ClinVar
Risk rs386834151(;)
Alt rs386834151(;)
Reference rs386834151(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.88508923_88508924delTT
CLNSRC ClinVar
CLNACC RCV000050145.1,


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