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rs33947415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33947415(A;A)
Make rs33947415(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226684
GeneHBB
is asnp
is mentioned by
dbSNPrs33947415
ebirs33947415
HLIrs33947415
Exacrs33947415
Varsomers33947415
Maprs33947415
PheGenIrs33947415
hapmaprs33947415
1000 genomesrs33947415
hgdprs33947415
ensemblrs33947415
gopubmedrs33947415
geneviewrs33947415
scholarrs33947415
googlers33947415
pharmgkbrs33947415
gwascentralrs33947415
openSNPrs33947415
23andMers33947415
23andMe allrs33947415
SNP Nexus

SNPshotrs33947415
SNPdbers33947415
MSV3drs33947415
GWAS Ctlgrs33947415
Max Magnitude0
OMIM141900
Desc
Variant0050
Relatedalso
OMIM141900
Desc
Variant0147
Relatedalso
ClinVar
Risk rs33947415(A,C;A,C)
Alt rs33947415(A,C;A,C)
Reference rs33947415(G;G)
Significance Other
Disease HEMOGLOBIN KENITRA HEMOGLOBIN CITY OF HOPE Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KENITRA HEMOGLOBIN CITY OF HOPE Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5247914C>G; NC_000011.9:g.5247914C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016437.2, RCV000016301.2, RCV000029969.2,


[PMID 1353069] Hb City of Hope [beta 69(E13)Gly----Ser] in Italy: association of the gene with haplotype IX.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 2467892] Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia.


[PMID 3957690] The identification of five rare beta-chain abnormal hemoglobins by high performance liquid chromatographic procedures.


[PMID 6434492] A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser.


[PMID 17932132] Mass spectrometry: a tool for enhanced detection of hemoglobin variants. [PMID 3838975] Hemoglobin kenitra alpha 2 beta 2 69 (E13) Gly----Arg. A new beta variant of elevated expression associated with alpha-thalassemia, found in a Moroccan woman.