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rs33972593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33972593(A;A)
Make rs33972593(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226686
GeneHBB
is asnp
is mentioned by
dbSNPrs33972593
ebirs33972593
HLIrs33972593
Exacrs33972593
Varsomers33972593
Maprs33972593
PheGenIrs33972593
hapmaprs33972593
1000 genomesrs33972593
hgdprs33972593
ensemblrs33972593
gopubmedrs33972593
geneviewrs33972593
scholarrs33972593
googlers33972593
pharmgkbrs33972593
gwascentralrs33972593
openSNPrs33972593
23andMers33972593
23andMe allrs33972593
SNP Nexus

SNPshotrs33972593
SNPdbers33972593
MSV3drs33972593
GWAS Ctlgrs33972593
Max Magnitude0
OMIM141900
Desc
Variant0029
Relatedalso
OMIM141900
Desc
Variant0181
Relatedalso
ClinVar
Risk rs33972593(A,C;A,C)
Alt rs33972593(A,C;A,C)
Reference rs33972593(T;T)
Significance Other
Disease HEMOGLOBIN MIZUHO HEMOGLOBIN BRISBANE HEMOGLOBIN GREAT LAKES
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MIZUHO HEMOGLOBIN BRISBANE HEMOGLOBIN GREAT LAKES
Reversed 1
HGVS NC_000011.9:g.5247916A>G; NC_000011.9:g.5247916A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016497.2, RCV000016272.2, RCV000016273.2,


[PMID 893142] Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia.


[PMID 1726094] Hb Mizuho or alpha 2 beta (2)68(E12)Leu----Pro in a Caucasian boy with high levels of Hb F; identification by sequencing of amplified DNA.


[PMID 2272836] Hb Mizuho [beta 68(E12)Leu----Pro]. Second occurrence identified in a Caucasian child with hemolytic anemia and dense erythrocyte inclusions.


[PMID 7558877] HB Mizuho or alpha 2 beta 2 68(E12)Leu-->Pro in a young Dutch boy.


[PMID 6166590] Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant.


[PMID 6629830] Hb Brisbane (beta 68 (E12) Leu replaced by His) is unstable.


[PMID 7272510] Hemoglobin Great Lakes (beta 68 [E12] leucine replaced by histidine): a new high-affinity hemoglobin.


[PMID 7419431] Hemoglobinopathies in Oceania.