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rs33971634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33971634(A;A)
Make rs33971634(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225660
GeneHBB
is asnp
is mentioned by
dbSNPrs33971634
ebirs33971634
HLIrs33971634
Exacrs33971634
Varsomers33971634
Maprs33971634
PheGenIrs33971634
hapmaprs33971634
1000 genomesrs33971634
hgdprs33971634
ensemblrs33971634
gopubmedrs33971634
geneviewrs33971634
scholarrs33971634
googlers33971634
pharmgkbrs33971634
gwascentralrs33971634
openSNPrs33971634
23andMers33971634
23andMe allrs33971634
SNP Nexus

SNPshotrs33971634
SNPdbers33971634
MSV3drs33971634
GWAS Ctlgrs33971634
Max Magnitude0
OMIM141900
Desc
Variant0027
Relatedalso
OMIM141900
Desc
Variant0096
Relatedalso
ClinVar
Risk rs33971634(A,G,T;A,G,T)
Alt rs33971634(A,G,T;A,G,T)
Reference rs33971634(C;C)
Significance Other
Disease HEMOGLOBIN HACETTEPE HEMOGLOBIN COMPLUTENSE HEMOGLOBIN BREST
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HACETTEPE HEMOGLOBIN COMPLUTENSE HEMOGLOBIN BREST
Reversed 1
HGVS NC_000011.9:g.5246890G>C; NC_000011.9:g.5246890G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016366.2, RCV000016367.2, RCV000016270.2,


[PMID 938658] Hemoglobin Hacettepe or alpha 2 beta 2 127 (H5) Gln replaced by Glu.


[PMID 3660178] [Hemoglobin Complutense (beta 127 (H5) Gln replaced by Glu) in a Spanish family].


[PMID 3707969] Hb J-Antakya or alpha 2 beta (2)65(E9)Lys----Met in a Turkish family and Hb complutense or alpha 2 beta (2)127(H5)Gln----Glu in a Spanish family; correction of a previously published identification.


[PMID 3384710] Hemoglobin Brest [beta 127 (H5)Gln----Lys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior.


[PMID 1958498] A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.