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rs267607298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs267607298(-;-)
Make rs267607298(-;CC)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226775
GeneHBB
is asnp
is mentioned by
dbSNPrs267607298
ebirs267607298
HLIrs267607298
Exacrs267607298
Varsomers267607298
Maprs267607298
PheGenIrs267607298
hapmaprs267607298
1000 genomesrs267607298
hgdprs267607298
ensemblrs267607298
gopubmedrs267607298
geneviewrs267607298
scholarrs267607298
googlers267607298
pharmgkbrs267607298
gwascentralrs267607298
openSNPrs267607298
23andMers267607298
23andMe allrs267607298
SNP Nexus

SNPshotrs267607298
SNPdbers267607298
MSV3drs267607298
GWAS Ctlgrs267607298
Max Magnitude0
ClinVar
Risk rs267607298(;)
Alt rs267607298(;)
Reference rs267607298(CC;CC)
Significance Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248005_5248006delGG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016817.26,


[PMID 8682512] Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation.