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rs34095019

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34095019(C;C)
Make rs34095019(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225642
GeneHBB
is asnp
is mentioned by
dbSNPrs34095019
dbSNP (classic)rs34095019
ClinGenrs34095019
ebirs34095019
HLIrs34095019
Exacrs34095019
Gnomadrs34095019
Varsomers34095019
LitVarrs34095019
Maprs34095019
PheGenIrs34095019
Biobankrs34095019
1000 genomesrs34095019
hgdprs34095019
ensemblrs34095019
geneviewrs34095019
scholarrs34095019
googlers34095019
pharmgkbrs34095019
gwascentralrs34095019
openSNPrs34095019
23andMers34095019
SNPshotrs34095019
SNPdbers34095019
MSV3drs34095019
GWAS Ctlgrs34095019
Max Magnitude0
OMIM141900
Desc
Variant0074
Relatedalso


ClinVar
Risk rs34095019(A;A) rs34095019(C;C)
Alt rs34095019(A;A) rs34095019(C;C)
Reference Rs34095019(G;G)
Significance Other
Disease HEMOGLOBIN EXTREMADURA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN EXTREMADURA
Reversed 1
HGVS NC_000011.9:g.5246872C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016335.2,



[PMID 2599886] Hb Extremadura or alpha 2 beta 2133 (H11)Val----Leu, a new mildly unstable hemoglobin in a Spanish female.