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rs34389944

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34389944(A;A)
Make rs34389944(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234357
GeneHBD
is asnp
is mentioned by
dbSNPrs34389944
dbSNP (classic)rs34389944
ClinGenrs34389944
ebirs34389944
HLIrs34389944
Exacrs34389944
Gnomadrs34389944
Varsomers34389944
LitVarrs34389944
Maprs34389944
PheGenIrs34389944
Biobankrs34389944
1000 genomesrs34389944
hgdprs34389944
ensemblrs34389944
geneviewrs34389944
scholarrs34389944
googlers34389944
pharmgkbrs34389944
gwascentralrs34389944
openSNPrs34389944
23andMers34389944
SNPshotrs34389944
SNPdbers34389944
MSV3drs34389944
GWAS Ctlgrs34389944
Max Magnitude0
OMIM142000
Desc
Variant0017
Relatedalso


ClinVar
Risk rs34389944(A;A)
Alt rs34389944(A;A)
Reference Rs34389944(G;G)
Significance Other
Disease HEMOGLOBIN A(2) YOKOSHIMA
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) YOKOSHIMA
Reversed 1
HGVS NC_000011.9:g.5255587C>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016205.1,



[PMID 3841531] Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family.