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rs35291591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35291591(A;A)
Make rs35291591(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225604
GeneHBB
is asnp
is mentioned by
dbSNPrs35291591
ebirs35291591
HLIrs35291591
Exacrs35291591
Varsomers35291591
Maprs35291591
PheGenIrs35291591
hapmaprs35291591
1000 genomesrs35291591
hgdprs35291591
ensemblrs35291591
gopubmedrs35291591
geneviewrs35291591
scholarrs35291591
googlers35291591
pharmgkbrs35291591
gwascentralrs35291591
openSNPrs35291591
23andMers35291591
23andMe allrs35291591
SNP Nexus

SNPshotrs35291591
SNPdbers35291591
MSV3drs35291591
GWAS Ctlgrs35291591
Max Magnitude0
OMIM141900
Desc
Variant0175
Relatedalso


ClinVar
Risk rs35291591(A;A)
Alt rs35291591(A;A)
Reference rs35291591(T;T)
Significance Other
Disease HEMOGLOBIN MCKEES ROCKS
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MCKEES ROCKS
Reversed 1
HGVS NC_000011.9:g.5246834A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016489.2,



[PMID 629932] Proton nuclear magnetic resonance studies of hemoglobins Osler (beta145HC2 Tyr replaced by Asp) and McKee Rocks (beta145HC2 Tyr replaced by term): an assignment for an important tertiary structural probe in hemoglobin.


[PMID 1249207OA-icon.png] Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.


[PMID 6841128] A second case of hemoglobin McKees Rocks (beta 145 Tyr leads to Term). A variant with premature termination of the beta-chain.