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rs33919821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33919821(C;C)
Make rs33919821(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225627
GeneHBB
is asnp
is mentioned by
dbSNPrs33919821
ebirs33919821
HLIrs33919821
Exacrs33919821
Varsomers33919821
Maprs33919821
PheGenIrs33919821
hapmaprs33919821
1000 genomesrs33919821
hgdprs33919821
ensemblrs33919821
gopubmedrs33919821
geneviewrs33919821
scholarrs33919821
googlers33919821
pharmgkbrs33919821
gwascentralrs33919821
openSNPrs33919821
23andMers33919821
23andMe allrs33919821
SNP Nexus

SNPshotrs33919821
SNPdbers33919821
MSV3drs33919821
GWAS Ctlgrs33919821
Max Magnitude0
OMIM141900
Desc
Variant0032
Relatedalso
OMIM141900
Desc
Variant0517
Relatedalso
ClinVar
Risk rs33919821(A,C;A,C)
Alt rs33919821(A,C;A,C)
Reference rs33919821(G;G)
Significance Other
Disease HEMOGLOBIN BROCKTON HEMOGLOBIN BUZEN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BROCKTON HEMOGLOBIN BUZEN
Reversed 1
HGVS NC_000011.9:g.5246857C>G; NC_000011.9:g.5246857C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016275.2, RCV000016873.2,


[PMID 2599887] Hb Brockton [alpha 2 beta 2138(H16)Ala----Pro] observed in a Turkish girl.


[PMID 6252122] Hemoglobin variants and methods used for their characterization during 7 years of screening at the Center for Disease Control.


[PMID 9730372] Hb Brockton [beta138(H16)Ala-->Pro] observed in a Chinese boy.


[PMID 14649315] Hb Buzen [beta138(H16)Ala --> Thr (g.1395 G -->A)]: a new beta chain variant.