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rs28928886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28928886(C;C)
Make rs28928886(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176956
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928886
ebirs28928886
HLIrs28928886
Exacrs28928886
Varsomers28928886
Maprs28928886
PheGenIrs28928886
hapmaprs28928886
1000 genomesrs28928886
hgdprs28928886
ensemblrs28928886
gopubmedrs28928886
geneviewrs28928886
scholarrs28928886
googlers28928886
pharmgkbrs28928886
gwascentralrs28928886
openSNPrs28928886
23andMers28928886
23andMe allrs28928886
SNP Nexus

SNPshotrs28928886
SNPdbers28928886
MSV3drs28928886
GWAS Ctlgrs28928886
Max Magnitude0
OMIM141800
DescHEMOGLOBIN SARATOGA SPRINGS
Variant0209
Relatedalso
Neighborrs28928880
Distance166
Neighborrs28928883
Distance14
ClinVar
Risk rs28928886(C;C)
Alt rs28928886(C;C)
Reference rs28928886(G;G)
Significance Other
Disease HEMOGLOBIN SARATOGA SPRINGS
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN SARATOGA SPRINGS
Reversed 0
HGVS NC_000016.9:g.226955G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017228.2,


[PMID 14649314] Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].