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

rs34037627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34037627(A;A)
Make rs34037627(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226728
GeneHBB
is asnp
is mentioned by
dbSNPrs34037627
dbSNP (classic)rs34037627
ClinGenrs34037627
ebirs34037627
HLIrs34037627
Exacrs34037627
Gnomadrs34037627
Varsomers34037627
LitVarrs34037627
Maprs34037627
PheGenIrs34037627
Biobankrs34037627
1000 genomesrs34037627
hgdprs34037627
ensemblrs34037627
geneviewrs34037627
scholarrs34037627
googlers34037627
pharmgkbrs34037627
gwascentralrs34037627
openSNPrs34037627
23andMers34037627
SNPshotrs34037627
SNPdbers34037627
MSV3drs34037627
GWAS Ctlgrs34037627
Max Magnitude0
OMIM141900
Desc
Variant0401
Relatedalso


ClinVar
Risk rs34037627(A;A)
Alt rs34037627(A;A)
Reference Rs34037627(T;T)
Significance Other
Disease HEMOGLOBIN JACKSONVILLE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN JACKSONVILLE
Reversed 1
HGVS NC_000011.9:g.5247958A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016750.2,



[PMID 2101840] Hb Jacksonville [alpha 2 beta 2(54)(D5)Val----Asp]: a new unstable variant found in a patient with hemolytic anemia.