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rs35890959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35890959(A;A)
Make rs35890959(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226961
GeneHBB
is asnp
is mentioned by
dbSNPrs35890959
dbSNP (classic)rs35890959
ClinGenrs35890959
ebirs35890959
HLIrs35890959
Exacrs35890959
Gnomadrs35890959
Varsomers35890959
LitVarrs35890959
Maprs35890959
PheGenIrs35890959
Biobankrs35890959
1000 genomesrs35890959
hgdprs35890959
ensemblrs35890959
geneviewrs35890959
scholarrs35890959
googlers35890959
pharmgkbrs35890959
gwascentralrs35890959
openSNPrs35890959
23andMers35890959
SNPshotrs35890959
SNPdbers35890959
MSV3drs35890959
GWAS Ctlgrs35890959
Max Magnitude0
OMIM141900
Desc
Variant0210
Relatedalso


ClinVar
Risk rs35890959(A;A) rs35890959(T;T)
Alt rs35890959(A;A) rs35890959(T;T)
Reference Rs35890959(G;G)
Significance Other
Disease HEMOGLOBIN OLYMPIA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN OLYMPIA
Reversed 1
HGVS NC_000011.9:g.5248191C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016533.3,



[PMID 2599884] Hb Olympia [beta 20 (B2) Val----MeT] in a Swedish family.


[PMID 4683875OA-icon.png] Hemoglobin olympia ( 20 valine leads to methionine): an electrophoretically silent variant associated with high oxygen affinity and erythrocytosis.


[PMID 6863429] Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography.


[PMID 8891722] Abnormal hemoglobins with high oxygen affinity and erythrocytosis.