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rs33924775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33924775(A;A)
Make rs33924775(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226615
GeneHBB
is asnp
is mentioned by
dbSNPrs33924775
ebirs33924775
HLIrs33924775
Exacrs33924775
Varsomers33924775
Maprs33924775
PheGenIrs33924775
hapmaprs33924775
1000 genomesrs33924775
hgdprs33924775
ensemblrs33924775
gopubmedrs33924775
geneviewrs33924775
scholarrs33924775
googlers33924775
pharmgkbrs33924775
gwascentralrs33924775
openSNPrs33924775
23andMers33924775
23andMe allrs33924775
SNP Nexus

SNPshotrs33924775
SNPdbers33924775
MSV3drs33924775
GWAS Ctlgrs33924775
Max Magnitude0
OMIM141900
Desc
Variant0119
Relatedalso
OMIM141900
Desc
Variant0164
Relatedalso
OMIM141900
Desc
Variant0404
Relatedalso
ClinVar
Risk rs33924775(A,G,T;A,G,T)
Alt rs33924775(A,G,T;A,G,T)
Reference rs33924775(C;C)
Significance Other
Disease HEMOGLOBIN M (MILWAUKEE 2) HEMOGLOBIN M (HYDE PARK) HEMOGLOBIN M (AKITA) HEMOGLOBIN J (ALTGELD GARDENS) Hemoglobinopathy
Variation info
Gene HBB
CLNDBN HEMOGLOBIN M (MILWAUKEE 2) HEMOGLOBIN M (HYDE PARK) HEMOGLOBIN M (AKITA) HEMOGLOBIN J (ALTGELD GARDENS) Hemoglobinopathy
Reversed 1
HGVS NC_000011.9:g.5247845G>A; NC_000011.9:g.5247845G>C; NC_000011.9:g.5247845G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016463.2, RCV000016464.2, RCV000016465.2, RCV000016396.2, RCV000016756.3,


[PMID 619989] Oxidation-reduction reactions of hemoglobin A, hemoglobin M Iwate, and hemoglobin M Hyde Park.


[PMID 933112OA-icon.png] Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.


[PMID 4413625] Haemoglobin M Saskatoon and haemoglobin M Hyde Park in two Yugoslavian families.


[PMID 5651685] Oxygen equilibrium of hemoglobin M-Hyde Park.


[PMID 5669922] Amino acid substitution in hemoglobin Makita.


[PMID 9494043] DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita.


[PMID 721609] Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain.


[PMID 1787097] Hb Isehara (or Hb Redondo) [beta 92 (F8) His----Asn]: an unstable variant with a proximal histidine substitution at the heme contact.


[PMID 1951318] Hemoglobin Redondo [beta 92(F8) His----Asn]: an unstable hemoglobin variant associated with heme loss which occurs in two forms.