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rs281875232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281875232(C;C)
Make rs281875232(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position72135413
GeneCYP26B1
is asnp
is mentioned by
dbSNPrs281875232
ebirs281875232
HLIrs281875232
Exacrs281875232
Varsomers281875232
Maprs281875232
PheGenIrs281875232
hapmaprs281875232
1000 genomesrs281875232
hgdprs281875232
ensemblrs281875232
gopubmedrs281875232
geneviewrs281875232
scholarrs281875232
googlers281875232
pharmgkbrs281875232
gwascentralrs281875232
openSNPrs281875232
23andMers281875232
23andMe allrs281875232
SNP Nexus

SNPshotrs281875232
SNPdbers281875232
MSV3drs281875232
GWAS Ctlgrs281875232
Max Magnitude0
ClinVar
Risk rs281875232(C;C)
Alt rs281875232(C;C)
Reference rs281875232(T;T)
Significance Pathogenic
Disease Radiohumeral fusions with other skeletal and craniofacial anomalies not provided
Variation info
Gene CYP26B1
CLNDBN Radiohumeral fusions with other skeletal and craniofacial anomalies not provided
Reversed 1
HGVS NC_000002.11:g.72362542A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023401.2, RCV000059691.1,


[PMID 22019272OA-icon.png] Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.