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rs33991993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33991993(C;C)
Make rs33991993(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226643
GeneHBB
is asnp
is mentioned by
dbSNPrs33991993
ebirs33991993
HLIrs33991993
Exacrs33991993
Varsomers33991993
Maprs33991993
PheGenIrs33991993
hapmaprs33991993
1000 genomesrs33991993
hgdprs33991993
ensemblrs33991993
gopubmedrs33991993
geneviewrs33991993
scholarrs33991993
googlers33991993
pharmgkbrs33991993
gwascentralrs33991993
openSNPrs33991993
23andMers33991993
23andMe allrs33991993
SNP Nexus

SNPshotrs33991993
SNPdbers33991993
MSV3drs33991993
GWAS Ctlgrs33991993
Max Magnitude0
OMIM141900
Desc
Variant0227
Relatedalso
OMIM141900
Desc
Variant0246
Relatedalso
ClinVar
Risk rs33991993(C,T;C,T)
Alt rs33991993(C,T;C,T)
Reference rs33991993(G;G)
Significance Other
Disease HEMOGLOBIN PROVIDENCE HEMOGLOBIN S (PROVIDENCE)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PROVIDENCE HEMOGLOBIN S (PROVIDENCE)
Reversed 1
HGVS NC_000011.10:g.5226643C>R
CLNSRC OMIM Allelic Variant
CLNACC RCV000016559.1, RCV000016579.3,


[PMID 12172] Hemoglobin providence. Functional consequences of two alterations of the 2,3-diphosphoglycerate binding site at position beta 82.


[PMID 14973OA-icon.png] Postsynthetic deamidation of hemoglobin Providence (beta 82 Lys replaced by Asn, Asp) and its effect on oxygen transport.


[PMID 1002699] Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo.