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rs34484056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34484056(A;A)
Make rs34484056(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5225701
GeneHBB
is asnp
is mentioned by
dbSNPrs34484056
ebirs34484056
HLIrs34484056
Exacrs34484056
Varsomers34484056
Maprs34484056
PheGenIrs34484056
hapmaprs34484056
1000 genomesrs34484056
hgdprs34484056
ensemblrs34484056
gopubmedrs34484056
geneviewrs34484056
scholarrs34484056
googlers34484056
pharmgkbrs34484056
gwascentralrs34484056
openSNPrs34484056
23andMers34484056
23andMe allrs34484056
SNP Nexus

SNPshotrs34484056
SNPdbers34484056
MSV3drs34484056
GWAS Ctlgrs34484056
Max Magnitude0
OMIM141900
Desc
Variant0196
Relatedalso


ClinVar
Risk rs34484056(A;A)
Alt rs34484056(A;A)
Reference rs34484056(T;T)
Significance Pathogenic
Disease not specified
Variation info
Gene HBB
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.5246931A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016516.3,



[PMID 1634358] Hb Kaohsiung or New York: a T----A substitution at codon 113 of the beta-globin chain creates an Alu I cutting site.


[PMID 5124025] Double heterozygosity for hemoglobin E and hemoglobin New York in a Thai family.


[PMID 6030043] Haemoglobin New York.


[PMID 7068436] Hemoglobin New York (alpha 2 beta 2 113(G15) Val leads to Glu) in China.


[PMID 7295768] Identification of an abnormal hemoglobin with reduced oxygen affinity by high-performance liquid chromatography.


[PMID 7437334] Globin chain synthesis in haemoglobin New York (beta 113 replaced by glutamic acid).


[PMID 12403232] Allele related mutation specific-polymerase chain reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val-->Glu, beta(CD113 GTG-->GAG)).