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rs33946401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33946401(A;A)
Make rs33946401(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226680
GeneHBB
is asnp
is mentioned by
dbSNPrs33946401
ebirs33946401
HLIrs33946401
Exacrs33946401
Varsomers33946401
Maprs33946401
PheGenIrs33946401
hapmaprs33946401
1000 genomesrs33946401
hgdprs33946401
ensemblrs33946401
gopubmedrs33946401
geneviewrs33946401
scholarrs33946401
googlers33946401
pharmgkbrs33946401
gwascentralrs33946401
openSNPrs33946401
23andMers33946401
23andMe allrs33946401
SNP Nexus

SNPshotrs33946401
SNPdbers33946401
MSV3drs33946401
GWAS Ctlgrs33946401
Max Magnitude0
OMIM141900
Desc
Variant0256
Relatedalso
OMIM141900
Desc
Variant0536
Relatedalso
ClinVar
Risk rs33946401(A,G,T;A,G,T)
Alt rs33946401(A,G,T;A,G,T)
Reference rs33946401(C;C)
Significance Other
Disease HEMOGLOBIN MARINEO HEMOGLOBIN SEATTLE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MARINEO HEMOGLOBIN SEATTLE
Reversed 1
HGVS NC_000011.9:g.5247910G>A; NC_000011.9:g.5247910G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016888.2, RCV000016589.2,


[PMID 5427455] Hemoglobin-Seattle (alpha-2 beta-2 76-Glu): an unstable hemoglobin causing chronic hemolytic anemia.


[PMID 7928380] Hb Seattle [beta 70(E14)Ala- > Asp]: a report of a second kindred in a Ukrainian family.


[PMID 16798637] Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket.