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rs63751008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs63751008(A;A)
Make rs63751008(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177346
GeneHBA1
is asnp
is mentioned by
dbSNPrs63751008
dbSNP (classic)rs63751008
ClinGenrs63751008
ebirs63751008
HLIrs63751008
Exacrs63751008
Gnomadrs63751008
Varsomers63751008
LitVarrs63751008
Maprs63751008
PheGenIrs63751008
Biobankrs63751008
1000 genomesrs63751008
hgdprs63751008
ensemblrs63751008
geneviewrs63751008
scholarrs63751008
googlers63751008
pharmgkbrs63751008
gwascentralrs63751008
openSNPrs63751008
23andMers63751008
SNPshotrs63751008
SNPdbers63751008
MSV3drs63751008
GWAS Ctlgrs63751008
Max Magnitude0
OMIM141800
Desc
Variant0115
Relatedalso
ClinVar
Risk rs63751008(A;A)
Alt rs63751008(A;A)
Reference Rs63751008(G;G)
Significance Other
Disease HEMOGLOBIN OWARI
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN OWARI
Reversed 0
HGVS NC_000016.9:g.227345G>A
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017138.2,


[PMID 3754245] Hb Owari [alpha 121 (H 4) Val----Met]: a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing.