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rs35825479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35825479(C;C)
Make rs35825479(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225641
GeneHBB
is asnp
is mentioned by
dbSNPrs35825479
dbSNP (classic)rs35825479
ClinGenrs35825479
ebirs35825479
HLIrs35825479
Exacrs35825479
Gnomadrs35825479
Varsomers35825479
LitVarrs35825479
Maprs35825479
PheGenIrs35825479
Biobankrs35825479
1000 genomesrs35825479
hgdprs35825479
ensemblrs35825479
geneviewrs35825479
scholarrs35825479
googlers35825479
pharmgkbrs35825479
gwascentralrs35825479
openSNPrs35825479
23andMers35825479
SNPshotrs35825479
SNPdbers35825479
MSV3drs35825479
GWAS Ctlgrs35825479
Max Magnitude0
OMIM141900
Desc
Variant0496
Relatedalso


ClinVar
Risk rs35825479(C;C)
Alt rs35825479(C;C)
Reference Rs35825479(T;T)
Significance Other
Disease HEMOGLOBIN RENERT
Variation info
Gene HBB
CLNDBN HEMOGLOBIN RENERT
Reversed 1
HGVS NC_000011.9:g.5246871A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016852.2,



[PMID 11186258] Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis.


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


[PMID 11570728] A second case of Hb Renert [beta133(H11)Val --> Ala].