Have questions? Visit https://www.reddit.com/r/SNPedia

rs33932070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33932070(A;A)
Make rs33932070(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226750
GeneHBB
is asnp
is mentioned by
dbSNPrs33932070
ebirs33932070
HLIrs33932070
Exacrs33932070
Varsomers33932070
Maprs33932070
PheGenIrs33932070
hapmaprs33932070
1000 genomesrs33932070
hgdprs33932070
ensemblrs33932070
gopubmedrs33932070
geneviewrs33932070
scholarrs33932070
googlers33932070
pharmgkbrs33932070
gwascentralrs33932070
openSNPrs33932070
23andMers33932070
23andMe allrs33932070
SNP Nexus

SNPshotrs33932070
SNPdbers33932070
MSV3drs33932070
GWAS Ctlgrs33932070
Max Magnitude0
OMIM141900
Desc
Variant0080
Relatedalso
OMIM141900
Desc
Variant0170
Relatedalso
ClinVar
Risk rs33932070(A,C,T;A,C,T)
Alt rs33932070(A,C,T;A,C,T)
Reference rs33932070(G;G)
Significance Other
Disease HEMOGLOBIN MAPUTO HEMOGLOBIN G (COPENHAGEN)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MAPUTO HEMOGLOBIN G (COPENHAGEN)
Reversed 1
HGVS NC_000011.9:g.5247980C>A; NC_000011.9:g.5247980C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016483.2, RCV000016342.2,


[PMID 4077558] HB G-Copenhagen or alpha 2 beta 2(47) (CD6) Asp----Asn observed in a black newborn.


[PMID 6048303] Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A.


[PMID 7216819] Hemoglobin G Copenhagen beta 47 (CD6) Asp leads to Asn in a Sicilian family.


[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].


[PMID 6629824] Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).