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rs34446260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34446260(C;C)
Make rs34446260(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226706
GeneHBB
is asnp
is mentioned by
dbSNPrs34446260
dbSNP (classic)rs34446260
ClinGenrs34446260
ebirs34446260
HLIrs34446260
Exacrs34446260
Gnomadrs34446260
Varsomers34446260
LitVarrs34446260
Maprs34446260
PheGenIrs34446260
Biobankrs34446260
1000 genomesrs34446260
hgdprs34446260
ensemblrs34446260
geneviewrs34446260
scholarrs34446260
googlers34446260
pharmgkbrs34446260
gwascentralrs34446260
openSNPrs34446260
23andMers34446260
SNPshotrs34446260
SNPdbers34446260
MSV3drs34446260
GWAS Ctlgrs34446260
Max Magnitude0
OMIM141900
Desc
Variant0106
Relatedalso
ClinVar
Risk rs34446260(C;C) rs34446260(T;T)
Alt rs34446260(C;C) rs34446260(T;T)
Reference Rs34446260(G;G)
Significance Other
Disease HEMOGLOBIN HIKARI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HIKARI
Reversed 1
HGVS NC_000011.9:g.5247936C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016379.4,


[PMID 6792159] A further example of hemoglobin Hikari (beta 61[E5] Lys replaced by Asn).