Have questions? Visit https://www.reddit.com/r/SNPedia

rs28928878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Alpha Thalassemia carrier
(G;G) 0 common in complete genomics


Make rs28928878(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position177012
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928878
ebirs28928878
HLIrs28928878
Exacrs28928878
Varsomers28928878
Maprs28928878
PheGenIrs28928878
hapmaprs28928878
1000 genomesrs28928878
hgdprs28928878
ensemblrs28928878
gopubmedrs28928878
geneviewrs28928878
scholarrs28928878
googlers28928878
pharmgkbrs28928878
gwascentralrs28928878
openSNPrs28928878
23andMers28928878
23andMe allrs28928878
SNP Nexus

SNPshotrs28928878
SNPdbers28928878
MSV3drs28928878
GWAS Ctlgrs28928878
Max Magnitude3
OMIM141800
DescHEMOGLOBIN ADANA
Variant0174
Relatedalso
Neighborrs28928883
Distance42
Neighborrs28928887
Distance4
OMIM141800
Desc
Variant0151
Relatedalso
ClinVar
Risk rs28928878(A,T;A,T)
Alt rs28928878(A,T;A,T)
Reference rs28928878(G;G)
Significance Other
Disease HEMOGLOBIN ADANA Hemoglobin H disease HEMOGLOBIN TOTTORI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN ADANA Hemoglobin H disease, nondeletional HEMOGLOBIN TOTTORI
Reversed 0
HGVS NC_000016.9:g.227011G>A; NC_000016.9:g.227011G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017194.2, RCV000022600.4, RCV000017170.2,


[PMID 7275660] Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine).


[PMID 868864] alpha-Thalassemia and beta-thalassemia in a Turkish family.


[PMID 8237999] Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.


[PMID 9029003] Molecular defects in Hb H hydrops fetalis.