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rs34863047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34863047(A;A)
Make rs34863047(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177316
GeneHBA1
is asnp
is mentioned by
dbSNPrs34863047
ebirs34863047
HLIrs34863047
Exacrs34863047
Varsomers34863047
Maprs34863047
PheGenIrs34863047
hapmaprs34863047
1000 genomesrs34863047
hgdprs34863047
ensemblrs34863047
gopubmedrs34863047
geneviewrs34863047
scholarrs34863047
googlers34863047
pharmgkbrs34863047
gwascentralrs34863047
openSNPrs34863047
23andMers34863047
23andMe allrs34863047
SNP Nexus

SNPshotrs34863047
SNPdbers34863047
MSV3drs34863047
GWAS Ctlgrs34863047
Merged fromRs63749808
Max Magnitude0
OMIM141800
Desc
Variant0195
Relatedalso
ClinVar
Risk rs34863047(A;A)
Alt rs34863047(A;A)
Reference rs34863047(G;G)
Significance Other
Disease HEMOGLOBIN MOSELLA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN MOSELLA
Reversed 0
HGVS NC_000016.9:g.227315G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017214.2,


[PMID 8537232] Three new neutral alpha chain variants: Hb Bois Guillaume [alpha 65(E14(Ala-->Val], Hb Mantes-la-Jolie [alpha 79(EF8)Ala-Thr], and Hb Mosella [alpha 111(G18)Ala-->Thr].