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rs386834154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834154(-;-)
Make rs386834154(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position88093904
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834154
ebirs386834154
HLIrs386834154
Exacrs386834154
Varsomers386834154
Maprs386834154
PheGenIrs386834154
hapmaprs386834154
1000 genomesrs386834154
hgdprs386834154
ensemblrs386834154
gopubmedrs386834154
geneviewrs386834154
scholarrs386834154
googlers386834154
pharmgkbrs386834154
gwascentralrs386834154
openSNPrs386834154
23andMers386834154
23andMe allrs386834154
SNP Nexus

SNPshotrs386834154
SNPdbers386834154
MSV3drs386834154
GWAS Ctlgrs386834154
Max Magnitude0
ClinVar
Risk rs386834154(;)
Alt rs386834154(;)
Reference rs386834154(A;A)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88487681delT
CLNSRC ClinVar
CLNACC RCV000050148.1,


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