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rs111645889

From SNPedia

Orientationminus
Stabilizedminus
Make rs111645889(C;C)
Make rs111645889(C;T)
Make rs111645889(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225653
GeneHBB
is asnp
is mentioned by
dbSNPrs111645889
dbSNP (classic)rs111645889
ClinGenrs111645889
ebirs111645889
HLIrs111645889
Exacrs111645889
Gnomadrs111645889
Varsomers111645889
LitVarrs111645889
Maprs111645889
PheGenIrs111645889
Biobankrs111645889
1000 genomesrs111645889
hgdprs111645889
ensemblrs111645889
geneviewrs111645889
scholarrs111645889
googlers111645889
pharmgkbrs111645889
gwascentralrs111645889
openSNPrs111645889
23andMers111645889
SNPshotrs111645889
SNPdbers111645889
MSV3drs111645889
GWAS Ctlgrs111645889
Merged fromRs33942582
GMAF0.0004591
Max Magnitude0
OMIM141900
Desc
Variant0138
Relatedalso
OMIM141900
Desc
Variant0154
Relatedalso
ClinVar
Risk rs111645889(A;A) rs111645889(T;T)
Alt rs111645889(A;A) rs111645889(T;T)
Reference rs111645889(C;C)
Significance Other
Disease HEMOGLOBIN LA DESIRADE HEMOGLOBIN J (TAICHUNG) HEMOGLOBIN K (CAMEROON)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN LA DESIRADE HEMOGLOBIN J (TAICHUNG) HEMOGLOBIN K (CAMEROON)
Reversed 1
HGVS NC_000011.9:g.5246883G>A; NC_000011.9:g.5246883G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016450.2, RCV000016426.2, RCV000016429.2,


[PMID 5353125] Hemoglobin J Taichung:beta-129 ALA--ASP.


[PMID 3557994] Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin.