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rs34324664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34324664(C;C)
Make rs34324664(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176780
GeneHBA1
is asnp
is mentioned by
dbSNPrs34324664
dbSNP (classic)rs34324664
ClinGenrs34324664
ebirs34324664
HLIrs34324664
Exacrs34324664
Gnomadrs34324664
Varsomers34324664
LitVarrs34324664
Maprs34324664
PheGenIrs34324664
Biobankrs34324664
1000 genomesrs34324664
hgdprs34324664
ensemblrs34324664
geneviewrs34324664
scholarrs34324664
googlers34324664
pharmgkbrs34324664
gwascentralrs34324664
openSNPrs34324664
23andMers34324664
SNPshotrs34324664
SNPdbers34324664
MSV3drs34324664
GWAS Ctlgrs34324664
Max Magnitude0
OMIM141800
Desc
Variant0033
Relatedalso
ClinVar
Risk rs34324664(C;C)
Alt rs34324664(C;C)
Reference Rs34324664(G;G)
Significance Other
Disease HEMOGLOBIN FONTAINEBLEAU
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN FONTAINEBLEAU
Reversed 0
HGVS NC_000016.9:g.226779G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017020.2,


[PMID 2599878] Hb Fontainebleau [alpha 21(B2)Ala----pro], a new silent mutant hemoglobin.