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rs34093840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34093840(A;A)
Make rs34093840(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234372
GeneHBD
is asnp
is mentioned by
dbSNPrs34093840
dbSNP (classic)rs34093840
ClinGenrs34093840
ebirs34093840
HLIrs34093840
Exacrs34093840
Gnomadrs34093840
Varsomers34093840
LitVarrs34093840
Maprs34093840
PheGenIrs34093840
Biobankrs34093840
1000 genomesrs34093840
hgdprs34093840
ensemblrs34093840
geneviewrs34093840
scholarrs34093840
googlers34093840
pharmgkbrs34093840
gwascentralrs34093840
openSNPrs34093840
23andMers34093840
SNPshotrs34093840
SNPdbers34093840
MSV3drs34093840
GWAS Ctlgrs34093840
Max Magnitude0
OMIM142000
Desc
Variant0013
Relatedalso


ClinVar
Risk rs34093840(A;A) rs34093840(C;C)
Alt rs34093840(A;A) rs34093840(C;C)
Reference Rs34093840(T;T)
Significance Other
Disease HEMOGLOBIN A(2) ROOSEVELT
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) ROOSEVELT
Reversed 1
HGVS NC_000011.9:g.5255602A>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016201.1,



[PMID 952968] Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.