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rs34383403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs34383403(-;-)
Make rs34383403(-;TGGCCCACA)
Make rs34383403(TGGCCCACA;TGGCCCACA)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225609
GeneHBB
is asnp
is mentioned by
dbSNPrs34383403
ebirs34383403
HLIrs34383403
Exacrs34383403
Varsomers34383403
Maprs34383403
PheGenIrs34383403
hapmaprs34383403
1000 genomesrs34383403
hgdprs34383403
ensemblrs34383403
gopubmedrs34383403
geneviewrs34383403
scholarrs34383403
googlers34383403
pharmgkbrs34383403
gwascentralrs34383403
openSNPrs34383403
23andMers34383403
23andMe allrs34383403
SNP Nexus

SNPshotrs34383403
SNPdbers34383403
MSV3drs34383403
GWAS Ctlgrs34383403
Max Magnitude0
OMIM141900
Desc
Variant0389
Relatedalso


ClinVar
Risk rs34383403(TGGCCCACAA,A;TGGCCCACAA,A)
Alt rs34383403(TGGCCCACAA,A;TGGCCCACAA,A)
Reference rs34383403(TGGCCCACA;TGGCCCACA)
Significance Other
Disease HEMOGLOBIN BIRMINGHAM
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BIRMINGHAM
Reversed 1
HGVS NC_000011.9:g.5246839_5246847delTGTGGGCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000016736.2,



[PMID 2158827] Hemoglobin Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions.