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rs34621955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34621955(C;C)
Make rs34621955(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226712
GeneHBB
is asnp
is mentioned by
dbSNPrs34621955
ebirs34621955
HLIrs34621955
Exacrs34621955
Varsomers34621955
Maprs34621955
PheGenIrs34621955
hapmaprs34621955
1000 genomesrs34621955
hgdprs34621955
ensemblrs34621955
gopubmedrs34621955
geneviewrs34621955
scholarrs34621955
googlers34621955
pharmgkbrs34621955
gwascentralrs34621955
openSNPrs34621955
23andMers34621955
23andMe allrs34621955
SNP Nexus

SNPshotrs34621955
SNPdbers34621955
MSV3drs34621955
GWAS Ctlgrs34621955
Max Magnitude0
OMIM141900
Desc
Variant0134
Relatedalso
ClinVar
Risk rs34621955(A,C,T;A,C,T)
Alt rs34621955(A,C,T;A,C,T)
Reference rs34621955(G;G)
Significance Other
Disease HEMOGLOBIN J (LOME)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (LOME)
Reversed 1
HGVS NC_000011.9:g.5247942C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016421.2,


[PMID 457426] Hb J Lome beta 59 (E3) Lys is replaced by Asn associated with HPFH in a Togolese family.


[PMID 2703367] Hb J-Lome or alpha 2 beta 259(E3)Lys----Asn in a Vietnamese family.


[PMID 3085422] Identification of abnormal hemoglobin (J Lome): beta 59 (E3) lysine----asparagine in a Japanese.


[PMID 6406011] [Chemicostructural analysis of a case of hemoglobin J Lome (beta 59 (E3) Lys leads to Asn)].


[PMID 6668190] Hemoglobin J Lome: beta 59 (E3) lysine replaced by asparagine observed in a Japanese family.


[PMID 9846016] A patient with a hemoglobin variant (Hb JLome) unexpectedly detected by HPLC for glycated hemoglobin (Hb A1c).