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rs33978338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33978338(C;C)
Make rs33978338(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226755
GeneHBB
is asnp
is mentioned by
dbSNPrs33978338
ebirs33978338
HLIrs33978338
Exacrs33978338
Varsomers33978338
Maprs33978338
PheGenIrs33978338
hapmaprs33978338
1000 genomesrs33978338
hgdprs33978338
ensemblrs33978338
gopubmedrs33978338
geneviewrs33978338
scholarrs33978338
googlers33978338
pharmgkbrs33978338
gwascentralrs33978338
openSNPrs33978338
23andMers33978338
23andMe allrs33978338
SNP Nexus

SNPshotrs33978338
SNPdbers33978338
MSV3drs33978338
GWAS Ctlgrs33978338
Max Magnitude0
OMIM141900
Desc
Variant0047
Relatedalso
OMIM141900
Desc
Variant0458
Relatedalso
ClinVar
Risk rs33978338(A,C,G;A,C,G)
Alt rs33978338(A,C,G;A,C,G)
Reference rs33978338(T;T)
Significance Other
Disease HEMOGLOBIN ARTA HEMOGLOBIN CHEVERLY
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ARTA HEMOGLOBIN CHEVERLY
Reversed 1
HGVS NC_000011.9:g.5247985A>C; NC_000011.9:g.5247985A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016812.2, RCV000016298.2,


[PMID 6815132] Hb Cheverly or alpha 2 beta 2 45(CD4)Phe replaced by Ser in an elderly Italian male.


[PMID 6877904] Hemoglobin Cheverly: an unstable hemoglobin associated with chronic mild anemia.


[PMID 8555060] Hb Arta [beta 45 (CD4) Phe-->Cys]: a new unstable haemoglobin with reduced oxygen affinity in trans with beta-thalassaemia.


[PMID 20113286] Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.