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rs28928875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28928875(A;A)
Make rs28928875(A;C)
Make rs28928875(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177056
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928875
ebirs28928875
HLIrs28928875
Exacrs28928875
Varsomers28928875
Maprs28928875
PheGenIrs28928875
hapmaprs28928875
1000 genomesrs28928875
hgdprs28928875
ensemblrs28928875
gopubmedrs28928875
geneviewrs28928875
scholarrs28928875
googlers28928875
pharmgkbrs28928875
gwascentralrs28928875
openSNPrs28928875
23andMers28928875
23andMe allrs28928875
SNP Nexus

SNPshotrs28928875
SNPdbers28928875
MSV3drs28928875
GWAS Ctlgrs28928875
Max Magnitude0
OMIM141800
DescHEMOGLOBIN G (PEST)
Variant0041
Relatedalso
OMIM141800
DescHEMOGLOBIN G (TAICHUNG)
Variant0042
Relatedalso
OMIM141800
DescHEMOGLOBIN MATSUE-OKI
Variant0095
Relatedalso
OMIM141800
DescHEMOGLOBIN Q (IRAN)
Variant0122
Relatedalso
Neighborrs28928882
Distance4
Neighborrs28928876
Distance39
ClinVar
Risk rs28928875(A,C;A,C)
Alt rs28928875(A,C;A,C)
Reference rs28928875(G;G)
Significance Other
Disease HEMOGLOBIN G (PEST) HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q HEMOGLOBIN Q (THAILAND) HEMOGLOBIN MAHIDOL HEMOGLOBIN ASABARA HEMOGLOBIN KURASHIKI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN G (PEST) HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q HEMOGLOBIN Q (THAILAND) HEMOGLOBIN MAHIDOL HEMOGLOBIN ASABARA HEMOGLOBIN KURASHIKI
Reversed 0
HGVS NC_000016.9:g.227055G>A; NC_000016.9:g.227055G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017027.2, RCV000017028.2, RCV000017029.2, RCV000017030.2, RCV000017031.2, RCV000017032.2, RCV000017033.2,


[PMID 508945] The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.


[PMID 640847] Hemoglobin G Taichung (alpha 74 aspartic acid replaced by histidine) heterozygotes found in two Japanese families.


[PMID 1428945] A case of -(4.2)alpha T/-(4.2) alpha Q in combination with a beta zero-thalassemia homozygosity found in a family of the Zhuang nationality in china.


[PMID 2882671] HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes.


[PMID 5410724] Hemoglobin G Taichung: alpha-74 Asp leads to His.


[PMID 5460202] Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine.


[PMID 5475469] Hemoglobin Mahidol: a new hemoglobin alpha-chain mutant.


[PMID 7448125] The genetic basis of Hb Q-H disease.


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


[PMID 4550395] Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest.