Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607297(-;-)
Make rs267607297(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226784
GeneHBB
is asnp
is mentioned by
dbSNPrs267607297
ebirs267607297
HLIrs267607297
Exacrs267607297
Varsomers267607297
Maprs267607297
PheGenIrs267607297
hapmaprs267607297
1000 genomesrs267607297
hgdprs267607297
ensemblrs267607297
gopubmedrs267607297
geneviewrs267607297
scholarrs267607297
googlers267607297
pharmgkbrs267607297
gwascentralrs267607297
openSNPrs267607297
23andMers267607297
23andMe allrs267607297
SNP Nexus

SNPshotrs267607297
SNPdbers267607297
MSV3drs267607297
GWAS Ctlgrs267607297
Max Magnitude0
ClinVar
Risk rs267607297(;)
Alt rs267607297(;)
Reference rs267607297(C;C)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248014delG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016680.26,


[PMID 2736244] Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.