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rs28928883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(C;C) 3.5 altered hemoglobin
(C;G) 3.6 really altered hemoglobin
(G;G) 3.5 altered hemoglobin
Make rs28928883(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position176970
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928883
ebirs28928883
HLIrs28928883
Exacrs28928883
Varsomers28928883
Maprs28928883
PheGenIrs28928883
hapmaprs28928883
1000 genomesrs28928883
hgdprs28928883
ensemblrs28928883
gopubmedrs28928883
geneviewrs28928883
scholarrs28928883
googlers28928883
pharmgkbrs28928883
gwascentralrs28928883
openSNPrs28928883
23andMers28928883
23andMe allrs28928883
SNP Nexus

SNPshotrs28928883
SNPdbers28928883
MSV3drs28928883
GWAS Ctlgrs28928883
Max Magnitude3.6
OMIM141800
DescHEMOGLOBIN OITA
Variant0201
Relatedalso
Neighborrs28928886
Distance14
Neighborrs28928878
Distance42
OMIM141800
Desc
Variant0034
Relatedalso
ClinVar
Risk rs28928883(C,G;C,G)
Alt rs28928883(C,G;C,G)
Reference rs28928883(A;A)
Significance Other
Disease HEMOGLOBIN OITA HEMOGLOBIN FORT DE FRANCE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN OITA HEMOGLOBIN FORT DE FRANCE
Reversed 0
HGVS NC_000016.9:g.226969A>C; NC_000016.9:g.226969A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017220.2, RCV000017021.2,


[PMID 18205] Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity.


[PMID 2752146] Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val).