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rs34472107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34472107(C;T)
Make rs34472107(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177325
GeneHBA1
is asnp
is mentioned by
dbSNPrs34472107
dbSNP (classic)rs34472107
ClinGenrs34472107
ebirs34472107
HLIrs34472107
Exacrs34472107
Gnomadrs34472107
Varsomers34472107
LitVarrs34472107
Maprs34472107
PheGenIrs34472107
Biobankrs34472107
1000 genomesrs34472107
hgdprs34472107
ensemblrs34472107
geneviewrs34472107
scholarrs34472107
googlers34472107
pharmgkbrs34472107
gwascentralrs34472107
openSNPrs34472107
23andMers34472107
SNPshotrs34472107
SNPdbers34472107
MSV3drs34472107
GWAS Ctlgrs34472107
Merged fromRs63751114
Max Magnitude0
OMIM141800
Desc
Variant0183
Relatedalso
ClinVar
Risk rs34472107(G;G) rs34472107(T;T)
Alt rs34472107(G;G) rs34472107(T;T)
Reference Rs34472107(C;C)
Significance Other
Disease HEMOGLOBIN MELUSINE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN MELUSINE
Reversed 0
HGVS NC_000016.9:g.227324C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017203.2,


[PMID 8294199] Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant.