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rs33964623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33964623(A;C)
Make rs33964623(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177068
GeneHBA1
is asnp
is mentioned by
dbSNPrs33964623
ebirs33964623
HLIrs33964623
Exacrs33964623
Varsomers33964623
Maprs33964623
PheGenIrs33964623
hapmaprs33964623
1000 genomesrs33964623
hgdprs33964623
ensemblrs33964623
gopubmedrs33964623
geneviewrs33964623
scholarrs33964623
googlers33964623
pharmgkbrs33964623
gwascentralrs33964623
openSNPrs33964623
23andMers33964623
23andMe allrs33964623
SNP Nexus

SNPshotrs33964623
SNPdbers33964623
MSV3drs33964623
GWAS Ctlgrs33964623
Max Magnitude0
OMIM141800
Desc
Variant0074
Relatedalso
OMIM141850
Desc
Variant0019
Relatedalso
ClinVar
Risk rs33964623(C,G;C,G)
Alt rs33964623(C,G;C,G)
Reference rs33964623(A;A)
Significance Other
Disease HEMOGLOBIN J (SINGA) HEMOGLOBIN J (SINGAPORE)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (SINGA) HEMOGLOBIN J (SINGAPORE)
Reversed 0
HGVS NC_000016.9:g.227067A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017072.2, RCV000017073.2,


[PMID 6691995] Hb J-Singa (alpha-78 Asn leads to Asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 Asn leads to, alpha-79 Ala leads to Gly).


[PMID 2101836] Hb Davenport or alpha 2(78)(EF7)Asn----His beta 2.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.