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rs34407387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34407387(A;C)
Make rs34407387(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225623
GeneHBB
is asnp
is mentioned by
dbSNPrs34407387
ebirs34407387
HLIrs34407387
Exacrs34407387
Varsomers34407387
Maprs34407387
PheGenIrs34407387
hapmaprs34407387
1000 genomesrs34407387
hgdprs34407387
ensemblrs34407387
gopubmedrs34407387
geneviewrs34407387
scholarrs34407387
googlers34407387
pharmgkbrs34407387
gwascentralrs34407387
openSNPrs34407387
23andMers34407387
23andMe allrs34407387
SNP Nexus

SNPshotrs34407387
SNPdbers34407387
MSV3drs34407387
GWAS Ctlgrs34407387
Max Magnitude0
OMIM141900
Desc
Variant0485
Relatedalso


ClinVar
Risk rs34407387(C;C)
Alt rs34407387(C;C)
Reference rs34407387(A;A)
Significance Other
Disease HEMOGLOBIN SAGAMI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SAGAMI
Reversed 1
HGVS NC_000011.9:g.5246853T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016840.2,



[PMID 9654755] Hb Sagami [beta 139(H17)Asn-->Thr]: a new hemoglobin variant not detected by isoelectrofocusing and propan-2-ol test, was detected by electrospray ionization mass spectrometry.


[PMID 10490140] Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr].