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rs3180281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs3180281(A;A)
Make rs3180281(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177048
GeneHBA1
is asnp
is mentioned by
dbSNPrs3180281
ebirs3180281
HLIrs3180281
Exacrs3180281
Varsomers3180281
Maprs3180281
PheGenIrs3180281
hapmaprs3180281
1000 genomesrs3180281
hgdprs3180281
ensemblrs3180281
gopubmedrs3180281
geneviewrs3180281
scholarrs3180281
googlers3180281
pharmgkbrs3180281
gwascentralrs3180281
openSNPrs3180281
23andMers3180281
23andMe allrs3180281
SNP Nexus

SNPshotrs3180281
SNPdbers3180281
MSV3drs3180281
GWAS Ctlgrs3180281
Max Magnitude0
OMIM141800
Desc
Variant0065
Relatedalso
OMIM141800
Desc
Variant0173
Relatedalso
ClinVar
Risk rs3180281(A,G,T;A,G,T)
Alt rs3180281(A,G,T;A,G,T)
Reference rs3180281(C;C)
Significance Other
Disease HEMOGLOBIN J (HABANA) HEMOGLOBIN OZIERI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (HABANA) HEMOGLOBIN OZIERI
Reversed 0
HGVS NC_000016.9:g.227047C>A; NC_000016.9:g.227047C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017064.2, RCV000017193.2,


[PMID 3957691] The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu].


[PMID 4834679] A new haemoglobin J-Habana-alpha71(E20) alanine leads to glutamic acid.


[PMID 6618889] Hemoglobin J Habana found in a cord blood of a Japanese.