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rs33918131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33918131(A;A)
Make rs33918131(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226993
GeneHBB
is asnp
is mentioned by
dbSNPrs33918131
ebirs33918131
HLIrs33918131
Exacrs33918131
Varsomers33918131
Maprs33918131
PheGenIrs33918131
hapmaprs33918131
1000 genomesrs33918131
hgdprs33918131
ensemblrs33918131
gopubmedrs33918131
geneviewrs33918131
scholarrs33918131
googlers33918131
pharmgkbrs33918131
gwascentralrs33918131
openSNPrs33918131
23andMers33918131
23andMe allrs33918131
SNP Nexus

SNPshotrs33918131
SNPdbers33918131
MSV3drs33918131
GWAS Ctlgrs33918131
Max Magnitude0
OMIM141900
Desc
Variant0224
Relatedalso
OMIM141900
Desc
Variant0502
Relatedalso
OMIM141900
Desc
Variant0534
Relatedalso
ClinVar
Risk rs33918131(A,G;A,G)
Alt rs33918131(A,G;A,G)
Reference rs33918131(C;C)
Significance Other
Disease HEMOGLOBIN PORTO ALEGRE HEMOGLOBIN D (AGRI) HEMOGLOBIN BREM-SUR-MER
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PORTO ALEGRE HEMOGLOBIN D (AGRI) HEMOGLOBIN BREM-SUR-MER
Reversed 1
HGVS NC_000011.9:g.5248223G>C; NC_000011.9:g.5248223G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016556.2, RCV000016858.2, RCV000016886.2,


[PMID 4824922] Functional properties of hemoglobin Porto Alegre (alpha2A beta2 9Ser leads to Cys) and the reactivity of its extra cysteinyl residue.


[PMID 6048124] Polymerization of hemoglobins of mouse and man: structural basis.


[PMID 7928381] Association of Hb Santa Ana [alpha 2 beta (2)88(F4)Leu- > Pro] and Hb Porto Alegre [alpha 2 beta (2)9(A6)Ser- > Cys] in a Brazilian female.


[PMID 8294204] Hb Porto Alegre or alpha 2 beta 29(A6)Ser->Cys in unrelated families of the Canary Islands.


[PMID 11742129OA-icon.png] Hemoglobin Porto Alegre forms a tetramer of tetramers superstructure.


[PMID 15768558] Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].