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rs33916412

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33916412(C;C)
Make rs33916412(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226936
GeneHBB
is asnp
is mentioned by
dbSNPrs33916412
ebirs33916412
HLIrs33916412
Exacrs33916412
Varsomers33916412
Maprs33916412
PheGenIrs33916412
hapmaprs33916412
1000 genomesrs33916412
hgdprs33916412
ensemblrs33916412
gopubmedrs33916412
geneviewrs33916412
scholarrs33916412
googlers33916412
pharmgkbrs33916412
gwascentralrs33916412
openSNPrs33916412
23andMers33916412
23andMe allrs33916412
SNP Nexus

SNPshotrs33916412
SNPdbers33916412
MSV3drs33916412
GWAS Ctlgrs33916412
Max Magnitude0
OMIM141900
Desc
Variant0093
Relatedalso
OMIM141900
Desc
Variant0268
Relatedalso
OMIM141900
Desc
Variant0402
Relatedalso


ClinVar
Risk rs33916412(A,C,G;A,C,G)
Alt rs33916412(A,C,G;A,C,G)
Reference rs33916412(T;T)
Significance Other
Disease HEMOGLOBIN CHESTERFIELD HEMOGLOBIN GENOVA HEMOGLOBIN HYOGO HEMOGLOBIN ST. LOUIS Heinz body anemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CHESTERFIELD HEMOGLOBIN GENOVA HEMOGLOBIN HYOGO HEMOGLOBIN ST. LOUIS Heinz body anemia
Reversed 1
HGVS NC_000011.9:g.5248166A>C; NC_000011.9:g.5248166A>G; NC_000011.9:g.5248166A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016751.2, RCV000016362.2, RCV000016363.2, RCV000016611.2, RCV000016612.26,



[PMID 186485OA-icon.png] Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron.


[PMID 3557999] Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male.


[PMID 4722493] Haemoglobin Saint Louis beta28 (B10) leucine leads to glutamine. A new unstable haemoglobin only present in a ferri form.


[PMID 2105568] A case of the unstable Hb Genova (beta 28 Leu----Pro) in an Arab child associated with severe haemolytic anaemia and growth retardation.


[PMID 4685078] A new case of hemoglobin Genova 2 2 28(B10) Leu leads to Pro. Further studies on the mechanism of instability and defective synthesis.


[PMID 6054966] Haemoglobin Genova: beta-28 (B10) leucine replaced by proline.


[PMID 1675132] Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia.