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rs63749858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63749858(-;-)
Make rs63749858(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225611
GeneHBB
is asnp
is mentioned by
dbSNPrs63749858
ebirs63749858
HLIrs63749858
Exacrs63749858
Varsomers63749858
Maprs63749858
PheGenIrs63749858
hapmaprs63749858
1000 genomesrs63749858
hgdprs63749858
ensemblrs63749858
gopubmedrs63749858
geneviewrs63749858
scholarrs63749858
googlers63749858
pharmgkbrs63749858
gwascentralrs63749858
openSNPrs63749858
23andMers63749858
23andMe allrs63749858
SNP Nexus

SNPshotrs63749858
SNPdbers63749858
MSV3drs63749858
GWAS Ctlgrs63749858
Max Magnitude0
OMIM141900
Desc
Variant0255
Relatedalso
ClinVar
Risk rs63749858(;)
Alt rs63749858(;)
Reference rs63749858(A;A)
Significance Other
Disease HEMOGLOBIN SAVERNE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SAVERNE
Reversed 1
HGVS NC_000011.9:g.5246841delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016588.2,


[PMID 3170236] Hemoglobin Saverne: a new variant with elongated beta chains: structural and functional properties.