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rs34149886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34149886(A;G)
Make rs34149886(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5232968
GeneHBD
is asnp
is mentioned by
dbSNPrs34149886
dbSNP (classic)rs34149886
ClinGenrs34149886
ebirs34149886
HLIrs34149886
Exacrs34149886
Gnomadrs34149886
Varsomers34149886
LitVarrs34149886
Maprs34149886
PheGenIrs34149886
Biobankrs34149886
1000 genomesrs34149886
hgdprs34149886
ensemblrs34149886
geneviewrs34149886
scholarrs34149886
googlers34149886
pharmgkbrs34149886
gwascentralrs34149886
openSNPrs34149886
23andMers34149886
SNPshotrs34149886
SNPdbers34149886
MSV3drs34149886
GWAS Ctlgrs34149886
Max Magnitude0
OMIM142000
Desc
Variant0038
Relatedalso


ClinVar
Risk rs34149886(G;G) rs34149886(T;T)
Alt rs34149886(G;G) rs34149886(T;T)
Reference Rs34149886(A;A)
Significance Other
Disease HEMOGLOBIN A(2) MONREALE
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) MONREALE
Reversed 1
HGVS NC_000011.9:g.5254198T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016232.1,



[PMID 11939506] Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.