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rs35094013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35094013(A;A)
Make rs35094013(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226725
GeneHBB
is asnp
is mentioned by
dbSNPrs35094013
dbSNP (classic)rs35094013
ClinGenrs35094013
ebirs35094013
HLIrs35094013
Exacrs35094013
Gnomadrs35094013
Varsomers35094013
LitVarrs35094013
Maprs35094013
PheGenIrs35094013
Biobankrs35094013
1000 genomesrs35094013
hgdprs35094013
ensemblrs35094013
geneviewrs35094013
scholarrs35094013
googlers35094013
pharmgkbrs35094013
gwascentralrs35094013
openSNPrs35094013
23andMers35094013
SNPshotrs35094013
SNPdbers35094013
MSV3drs35094013
GWAS Ctlgrs35094013
Max Magnitude0
OMIM141900
Desc
Variant0173
Relatedalso


ClinVar
Risk rs35094013(A;A)
Alt rs35094013(A;A)
Reference Rs35094013(T;T)
Significance Other
Disease HEMOGLOBIN MATERA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MATERA
Reversed 1
HGVS NC_000011.9:g.5247955A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016487.3,



[PMID 2384314] Hb Matera [beta 55(D6)Met----Lys]: a new unstable hemoglobin variant in an Italian family.