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rs33924146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33924146(G;G)
Make rs33924146(G;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226765
GeneHBB
is asnp
is mentioned by
dbSNPrs33924146
ebirs33924146
HLIrs33924146
Exacrs33924146
Varsomers33924146
Maprs33924146
PheGenIrs33924146
hapmaprs33924146
1000 genomesrs33924146
hgdprs33924146
ensemblrs33924146
gopubmedrs33924146
geneviewrs33924146
scholarrs33924146
googlers33924146
pharmgkbrs33924146
gwascentralrs33924146
openSNPrs33924146
23andMers33924146
23andMe allrs33924146
SNP Nexus

SNPshotrs33924146
SNPdbers33924146
MSV3drs33924146
GWAS Ctlgrs33924146
Max Magnitude0
OMIM141900
Desc
Variant0160
Relatedalso
OMIM141900
Desc
Variant0257
Relatedalso


ClinVar
Risk rs33924146(C,G;C,G)
Alt rs33924146(C,G;C,G)
Reference rs33924146(T;T)
Significance Pathogenic
Disease Hemolytic anemia
Variation info
Gene HBB
CLNDBN Hemolytic anemia
Reversed 1
HGVS NC_000011.9:g.5247995A>C; NC_000011.9:g.5247995A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016590.6, RCV000016458.6,



[PMID 640848] Hemoglobin Louisville (beta 42 (CD1) phenylalanine replaced by leucine) occurring as a fresh mutation in a Canadian woman.


[PMID 1177282OA-icon.png] A new case of haemoglobin Bucuresti in a Cuban family: further functional studies.


[PMID 5096522OA-icon.png] Hemoglobin Louisville (beta-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia.


[PMID 5133275] Haemoglobin Buccuresti 42(CD1) Phe-Leu, a cause of unstable haemoglobin haemolytic anaemia.


[PMID 2294098] Hemoglobin Warsaw (Phe beta 42(CD1)----Val), an unstable variant with decreased oxygen affinity. Characterization of its synthesis, functional properties, and structure.


[PMID 2757001] Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression.


[PMID 3781864] Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of the beta-chain.