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rs281875231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875231(G;T)
Make rs281875231(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position72133081
GeneCYP26B1
is asnp
is mentioned by
dbSNPrs281875231
ebirs281875231
HLIrs281875231
Exacrs281875231
Varsomers281875231
Maprs281875231
PheGenIrs281875231
hapmaprs281875231
1000 genomesrs281875231
hgdprs281875231
ensemblrs281875231
gopubmedrs281875231
geneviewrs281875231
scholarrs281875231
googlers281875231
pharmgkbrs281875231
gwascentralrs281875231
openSNPrs281875231
23andMers281875231
23andMe allrs281875231
SNP Nexus

SNPshotrs281875231
SNPdbers281875231
MSV3drs281875231
GWAS Ctlgrs281875231
Max Magnitude0
ClinVar
Risk rs281875231(T;T)
Alt rs281875231(T;T)
Reference rs281875231(G;G)
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.72360210C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023400.2, RCV000059690.1,


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