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rs35939489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35939489(A;C)
Make rs35939489(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226692
GeneHBB
is asnp
is mentioned by
dbSNPrs35939489
ebirs35939489
HLIrs35939489
Exacrs35939489
Varsomers35939489
Maprs35939489
PheGenIrs35939489
hapmaprs35939489
1000 genomesrs35939489
hgdprs35939489
ensemblrs35939489
gopubmedrs35939489
geneviewrs35939489
scholarrs35939489
googlers35939489
pharmgkbrs35939489
gwascentralrs35939489
openSNPrs35939489
23andMers35939489
23andMe allrs35939489
SNP Nexus

SNPshotrs35939489
SNPdbers35939489
MSV3drs35939489
GWAS Ctlgrs35939489
Max Magnitude0
OMIM141900
Desc
Variant0048
Relatedalso


ClinVar
Risk rs35939489(C;C)
Alt rs35939489(C;C)
Reference rs35939489(A;A)
Significance Other
Disease HEMOGLOBIN CHICO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CHICO
Reversed 1
HGVS NC_000011.9:g.5247922T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016299.2,



[PMID 3429244] Hemoglobin Chico [beta 66(E10)Lys----Thr]: a new variant with decreased oxygen affinity.


[PMID 10085107] Altered ligand rebinding kinetics due to distal-side effects in hemoglobin chico (Lysbeta66(E10) --> thr).