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rs28928884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28928884(C;T)
Make rs28928884(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177292
GeneHBA1
is asnp
is mentioned by
dbSNPrs28928884
ebirs28928884
HLIrs28928884
Exacrs28928884
Varsomers28928884
Maprs28928884
PheGenIrs28928884
hapmaprs28928884
1000 genomesrs28928884
hgdprs28928884
ensemblrs28928884
gopubmedrs28928884
geneviewrs28928884
scholarrs28928884
googlers28928884
pharmgkbrs28928884
gwascentralrs28928884
openSNPrs28928884
23andMers28928884
23andMe allrs28928884
SNP Nexus

SNPshotrs28928884
SNPdbers28928884
MSV3drs28928884
GWAS Ctlgrs28928884
Max Magnitude0
OMIM141800
DescHEMOGLOBIN CHAROLLES
Variant0203
Relatedalso
Neighborrs28928877
Distance161
Neighborrs28928881
Distance60


ClinVar
Risk rs28928884(T;T)
Alt rs28928884(T;T)
Reference rs28928884(C;C)
Significance Other
Disease HEMOGLOBIN CHAROLLES
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN CHAROLLES
Reversed 0
HGVS NC_000016.9:g.227291C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017222.2,



[PMID 10569723] Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1].