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rs33987957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33987957(A;T)
Make rs33987957(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225677
GeneHBB
is asnp
is mentioned by
dbSNPrs33987957
ebirs33987957
HLIrs33987957
Exacrs33987957
Varsomers33987957
Maprs33987957
PheGenIrs33987957
hapmaprs33987957
1000 genomesrs33987957
hgdprs33987957
ensemblrs33987957
gopubmedrs33987957
geneviewrs33987957
scholarrs33987957
googlers33987957
pharmgkbrs33987957
gwascentralrs33987957
openSNPrs33987957
23andMers33987957
23andMe allrs33987957
SNP Nexus

SNPshotrs33987957
SNPdbers33987957
MSV3drs33987957
GWAS Ctlgrs33987957
Max Magnitude0
OMIM141900
Desc
Variant0020
Relatedalso
OMIM141900
Desc
Variant0412
Relatedalso
OMIM141900
Desc
Variant0445
Relatedalso
ClinVar
Risk rs33987957(C,G,T;C,G,T)
Alt rs33987957(C,G,T;C,G,T)
Reference rs33987957(A;A)
Significance Other
Disease HEMOGLOBIN BEOGRAD HEMOGLOBIN D (CAMPERDOWN) HEMOGLOBIN ST. FRANCIS HEMOGLOBIN D (NEATH)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BEOGRAD HEMOGLOBIN D (CAMPERDOWN) HEMOGLOBIN ST. FRANCIS HEMOGLOBIN D (NEATH)
Reversed 1
HGVS NC_000011.9:g.5246907T>A; NC_000011.9:g.5246907T>C; NC_000011.9:g.5246907T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016264.3, RCV000016265.3, RCV000016763.2, RCV000016799.2,


[PMID 1917532] Hb St. Francis [beta 121(GH4)Glu----Gly]: a new mutation at the same site as Hb D-Los Angeles.


[PMID 558572] A new hybrid haemoglobin: haemoglobin Strumica/Beograd occurring in an individual with four haemoglobins.


[PMID 809962] Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia.


[PMID 4761994] Hemoglobin Beograd or alpha 2 beta 2 121 Glu-Val (GH4).


[PMID 6480364] Hb Beograd-beta zero thalassemia in a Turkish family from Yugoslavia.


[PMID 8330979] Hb D-Neath or beta 121 (GH4) Glu-->Ala: a new member of the Hb D family.