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rs33959340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33959340(C;C)
Make rs33959340(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226609
GeneHBB
is asnp
is mentioned by
dbSNPrs33959340
ebirs33959340
HLIrs33959340
Exacrs33959340
Varsomers33959340
Maprs33959340
PheGenIrs33959340
hapmaprs33959340
1000 genomesrs33959340
hgdprs33959340
ensemblrs33959340
gopubmedrs33959340
geneviewrs33959340
scholarrs33959340
googlers33959340
pharmgkbrs33959340
gwascentralrs33959340
openSNPrs33959340
23andMers33959340
23andMe allrs33959340
SNP Nexus

SNPshotrs33959340
SNPdbers33959340
MSV3drs33959340
GWAS Ctlgrs33959340
Max Magnitude0
OMIM141900
Desc
Variant0016
Relatedalso
OMIM141900
Desc
Variant0035
Relatedalso
OMIM141900
Desc
Variant0535
Relatedalso
ClinVar
Risk rs33959340(A,C,T;A,C,T)
Alt rs33959340(A,C,T;A,C,T)
Reference rs33959340(G;G)
Significance Other
Disease HEMOGLOBIN GELDROP ST. ANNA HEMOGLOBIN BARCELONA HEMOGLOBIN BUNBURY
Variation info
Gene HBB
CLNDBN HEMOGLOBIN GELDROP ST. ANNA HEMOGLOBIN BARCELONA HEMOGLOBIN BUNBURY
Reversed 1
HGVS NC_000011.9:g.5247839C>A; NC_000011.9:g.5247839C>G; NC_000011.9:g.5247839C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016887.2, RCV000016258.2, RCV000016281.2,


[PMID 6842599] Structure and function of haemoglobin Barcelona Asp FG1(94) beta leads to His.


[PMID 7097767] Structural and functional studies of hemoglobin Barcelona (alpha 2 beta 2 94 Asp (FG1) replaced by His). Consequences of altering an important intrachain salt bridge involved in the alkaline Bohr effect.


[PMID 1517105] Erythrocytosis secondary to HB Bunbury [alpha 2 beta (2)94(FG1)Asp----Asn].


[PMID 6629823] A new hemoglobin with high oxygen affinity--hemoglobin bunbury: alpha 2 beta 2 [94 (FG1) Asp replaced by Asn].


[PMID 15921163] A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).