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rs33918343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33918343(A;A)
Make rs33918343(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226689
GeneHBB
is asnp
is mentioned by
dbSNPrs33918343
ebirs33918343
HLIrs33918343
Exacrs33918343
Varsomers33918343
Maprs33918343
PheGenIrs33918343
hapmaprs33918343
1000 genomesrs33918343
hgdprs33918343
ensemblrs33918343
gopubmedrs33918343
geneviewrs33918343
scholarrs33918343
googlers33918343
pharmgkbrs33918343
gwascentralrs33918343
openSNPrs33918343
23andMers33918343
23andMe allrs33918343
SNP Nexus

SNPshotrs33918343
SNPdbers33918343
MSV3drs33918343
GWAS Ctlgrs33918343
Max Magnitude0
OMIM141900
Desc
Variant0163
Relatedalso
OMIM141900
Desc
Variant0274
Relatedalso
OMIM141900
Desc
Variant0438
Relatedalso
ClinVar
Risk rs33918343(A,C,G;A,C,G)
Alt rs33918343(A,C,G;A,C,G)
Reference rs33918343(T;T)
Significance Other
Disease HEMOGLOBIN MANUKAU HEMOGLOBIN SYDNEY HEMOGLOBIN M (MILWAUKEE 1)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MANUKAU HEMOGLOBIN SYDNEY HEMOGLOBIN M (MILWAUKEE 1)
Reversed 1
HGVS NC_000011.9:g.5247919A>C; NC_000011.9:g.5247919A>G; NC_000011.9:g.5247919A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016792.2, RCV000016615.2, RCV000016462.2,


[PMID 4311041] Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic.


[PMID 5420327] Some observations on the properties of hemoglobin M Milwaukee-1.


[PMID 6050213] Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins.


[PMID 8280608] Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia.