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rs34439278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34439278(A;A)
Make rs34439278(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226722
GeneHBB
is asnp
is mentioned by
dbSNPrs34439278
ebirs34439278
HLIrs34439278
Exacrs34439278
Varsomers34439278
Maprs34439278
PheGenIrs34439278
hapmaprs34439278
1000 genomesrs34439278
hgdprs34439278
ensemblrs34439278
gopubmedrs34439278
geneviewrs34439278
scholarrs34439278
googlers34439278
pharmgkbrs34439278
gwascentralrs34439278
openSNPrs34439278
23andMers34439278
23andMe allrs34439278
SNP Nexus

SNPshotrs34439278
SNPdbers34439278
MSV3drs34439278
GWAS Ctlgrs34439278
Max Magnitude0
OMIM141900
Desc
Variant0124
Relatedalso


ClinVar
Risk rs34439278(A;A)
Alt rs34439278(A;A)
Reference rs34439278(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene HBB
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.5247952C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016405.4,



[PMID 5967288] Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).


[PMID 6025242] Haemoglobin J-Bangkok: a clinical, haematological and genetical study.


[PMID 12403500] Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family.