Have questions? Visit https://www.reddit.com/r/SNPedia

rs34049764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34049764(C;T)
Make rs34049764(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225693
GeneHBB
is asnp
is mentioned by
dbSNPrs34049764
ebirs34049764
HLIrs34049764
Exacrs34049764
Varsomers34049764
Maprs34049764
PheGenIrs34049764
hapmaprs34049764
1000 genomesrs34049764
hgdprs34049764
ensemblrs34049764
gopubmedrs34049764
geneviewrs34049764
scholarrs34049764
googlers34049764
pharmgkbrs34049764
gwascentralrs34049764
openSNPrs34049764
23andMers34049764
23andMe allrs34049764
SNP Nexus

SNPshotrs34049764
SNPdbers34049764
MSV3drs34049764
GWAS Ctlgrs34049764
GMAF0.0
Max Magnitude0
OMIM141900
Desc
Variant0494
Relatedalso


ClinVar
Risk rs34049764(T;T)
Alt rs34049764(T;T)
Reference rs34049764(C;C)
Significance Other
Disease HEMOGLOBIN TSUKUMI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TSUKUMI
Reversed 1
HGVS NC_000011.9:g.5246923G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016849.2,



[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.


[PMID 12403495] Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].