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rs28928879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs28928879(A;G)
Make rs28928879(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177117
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928879
ebirs28928879
HLIrs28928879
Exacrs28928879
Varsomers28928879
Maprs28928879
PheGenIrs28928879
hapmaprs28928879
1000 genomesrs28928879
hgdprs28928879
ensemblrs28928879
gopubmedrs28928879
geneviewrs28928879
scholarrs28928879
googlers28928879
pharmgkbrs28928879
gwascentralrs28928879
openSNPrs28928879
23andMers28928879
23andMe allrs28928879
SNP Nexus

SNPshotrs28928879
SNPdbers28928879
MSV3drs28928879
GWAS Ctlgrs28928879
Max Magnitude0
OMIM141800
DescHEMOGLOBIN CAPA
Variant0180
Relatedalso
Neighborrs28928876
Distance22
Neighborrs28928877
Distance14


ClinVar
Risk rs28928879(C,G;C,G)
Alt rs28928879(C,G;C,G)
Reference rs28928879(A;A)
Significance Other
Disease HEMOGLOBIN CAPA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN CAPA
Reversed 0
HGVS NC_000016.9:g.227116A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017199.2,



[PMID 8195009] Hb Capa or alpha (2)94(G1)Asp-->Gly beta 2, a mildly unstable variant with an A-->G (GAC-->GGC) mutation in codon 94 of the alpha 1-globin gene.


[PMID 15495251] Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity.