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rs33918338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(AC;AC) 0 common in clinvar
Make rs33918338(A;G)
Make rs33918338(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225611
GeneHBB
is asnp
is mentioned by
dbSNPrs33918338
ebirs33918338
HLIrs33918338
Exacrs33918338
Varsomers33918338
Maprs33918338
PheGenIrs33918338
hapmaprs33918338
1000 genomesrs33918338
hgdprs33918338
ensemblrs33918338
gopubmedrs33918338
geneviewrs33918338
scholarrs33918338
googlers33918338
pharmgkbrs33918338
gwascentralrs33918338
openSNPrs33918338
23andMers33918338
23andMe allrs33918338
SNP Nexus

SNPshotrs33918338
SNPdbers33918338
MSV3drs33918338
GWAS Ctlgrs33918338
Merged fromRs121909805, Rs121909820
Max Magnitude0
OMIM141900
Desc
Variant0002
Relatedalso
OMIM141900
Desc
Variant0275
Relatedalso
ClinVar
Risk rs33918338(C,G,T;C,G,T)
Alt rs33918338(C,G,T;C,G,T)
Reference rs33918338(A;A)
Significance Other
Disease HEMOGLOBIN ABRUZZO HEMOGLOBIN SYRACUSE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ABRUZZO HEMOGLOBIN SYRACUSE
Reversed 1
HGVS NC_000011.9:g.5246841T>C; NC_000011.9:g.5246841T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016243.2, RCV000016616.2,


[PMID 239943] Hemoglobin Abruzzo (beta143 (H21) His replaced by Arg). Consequences of altering the 2,3-diphosphoglycerate binding site.


[PMID 1158862] Allosteric interactions in non-alpha chains isolated from normal human hemoglobin, fetal hemoglobin, and hemoglobin Abruzzo (beta143 (H21) His replaced by Arg).


[PMID 5031790] Hemoglobin Abruzzo: beta 143 (H 21) His leads to Arg.


[PMID 234980OA-icon.png] Hemoglobin Syracuse (alpha2beta2-143(H21)His leads to Pro), a new high-affinity variant detected by special electrophoretic methods. Observations on the auto-oxidation of normal and variant hemoglobins.