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rs33980484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs33980484(A;C)
Make rs33980484(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226749
GeneHBB
is asnp
is mentioned by
dbSNPrs33980484
ebirs33980484
HLIrs33980484
Exacrs33980484
Varsomers33980484
Maprs33980484
PheGenIrs33980484
hapmaprs33980484
1000 genomesrs33980484
hgdprs33980484
ensemblrs33980484
gopubmedrs33980484
geneviewrs33980484
scholarrs33980484
googlers33980484
pharmgkbrs33980484
gwascentralrs33980484
openSNPrs33980484
23andMers33980484
23andMe allrs33980484
SNP Nexus

SNPshotrs33980484
SNPdbers33980484
MSV3drs33980484
GWAS Ctlgrs33980484
Max Magnitude0
OMIM141900
Desc
Variant0015
Relatedalso
OMIM141900
Desc
Variant0091
Relatedalso
ClinVar
Risk rs33980484(C,G,T;C,G,T)
Alt rs33980484(C,G,T;C,G,T)
Reference rs33980484(A;A)
Significance Other
Disease HEMOGLOBIN GAVELLO HEMOGLOBIN AVICENNA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN GAVELLO HEMOGLOBIN AVICENNA
Reversed 1
HGVS NC_000011.9:g.5247979T>C; NC_000011.9:g.5247979T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016359.2, RCV000016257.2,


[PMID 604315] Hemoglobin Gavello - alpha 2 beta 2 47 (CD6) Asp replaced by Gly. A new hemoglobin variant from Polesine (Italy).


[PMID 427203] Haemoglobin Avicenna (beta 47 (CD6) Asp replaced by Ala). A new abnormal haemoglobin.


[PMID 12368168] Identification and functional characterization of a new hemoglobin variant in Sardinia: Hb Muravera [beta47 GAT->GTT, (CD6) Asp->Val].