Have questions? Visit https://www.reddit.com/r/SNPedia

rs33951978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33951978(A;C)
Make rs33951978(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226599
GeneHBB
is asnp
is mentioned by
dbSNPrs33951978
ebirs33951978
HLIrs33951978
Exacrs33951978
Varsomers33951978
Maprs33951978
PheGenIrs33951978
hapmaprs33951978
1000 genomesrs33951978
hgdprs33951978
ensemblrs33951978
gopubmedrs33951978
geneviewrs33951978
scholarrs33951978
googlers33951978
pharmgkbrs33951978
gwascentralrs33951978
openSNPrs33951978
23andMers33951978
23andMe allrs33951978
SNP Nexus

SNPshotrs33951978
SNPdbers33951978
MSV3drs33951978
GWAS Ctlgrs33951978
Max Magnitude0
OMIM141900
Desc
Variant0193
Relatedalso
OMIM141900
Desc
Variant0300
Relatedalso
ClinVar
Risk rs33951978(C,T;C,T)
Alt rs33951978(C,T;C,T)
Reference rs33951978(A;A)
Significance Other
Disease HEMOGLOBIN WOOD HEMOGLOBIN NAGOYA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN WOOD HEMOGLOBIN NAGOYA
Reversed 1
HGVS NC_000011.9:g.5247829T>A; NC_000011.9:g.5247829T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016643.2, RCV000016513.2,


[PMID 36749] Comparison of hemoglobins Wood (alpha 2 beta 2 97 leu) and Malmo (alpha 2 beta 2 97 gln). Diagnostic value of citrate agar electrophoresis.


[PMID 238586] Nitrosylhemoglobin Wood: effects of inositol hexaphosphate on thiol reactivity and electron paramagnetic resonance spectrum.


[PMID 1164511] Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis.


[PMID 3838976] A new unstable, high oxygen affinity hemoglobin: Hb Nagoya or beta 97 (FG4) His----Pro.