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rs33921821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33921821(A;A)
Make rs33921821(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225614
GeneHBB
is asnp
is mentioned by
dbSNPrs33921821
ebirs33921821
HLIrs33921821
Exacrs33921821
Varsomers33921821
Maprs33921821
PheGenIrs33921821
hapmaprs33921821
1000 genomesrs33921821
hgdprs33921821
ensemblrs33921821
gopubmedrs33921821
geneviewrs33921821
scholarrs33921821
googlers33921821
pharmgkbrs33921821
gwascentralrs33921821
openSNPrs33921821
23andMers33921821
23andMe allrs33921821
SNP Nexus

SNPshotrs33921821
SNPdbers33921821
MSV3drs33921821
GWAS Ctlgrs33921821
Max Magnitude0
OMIM141900
Desc
Variant0204
Relatedalso
ClinVar
Risk rs33921821(A,T;A,T)
Alt rs33921821(A,T;A,T)
Reference rs33921821(C;C)
Significance Other
Disease HEMOGLOBIN S (TRAVIS) HEMOGLOBIN OHIO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN S (TRAVIS) HEMOGLOBIN OHIO
Reversed 1
HGVS NC_000011.9:g.5246844G>A; NC_000011.9:g.5246844G>T
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000016580.5, RCV000016527.2,


[PMID 7397380] Hemoglobin Ohio (beta 142 Ala replaced by): a new abnormal hemoglobin with high oxygen affinity and erythrocytosis.


[PMID 19257] Hemoglobin S Travis: a sickling hemoglobin with two amino acid substitutions [beta6(A3)glutamic acid leads to valine and beta142 (h20) alanine leads to valine).