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rs33985739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs33985739(A;A)
Make rs33985739(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225601
GeneHBB
is asnp
is mentioned by
dbSNPrs33985739
ebirs33985739
HLIrs33985739
Exacrs33985739
Varsomers33985739
Maprs33985739
PheGenIrs33985739
hapmaprs33985739
1000 genomesrs33985739
hgdprs33985739
ensemblrs33985739
gopubmedrs33985739
geneviewrs33985739
scholarrs33985739
googlers33985739
pharmgkbrs33985739
gwascentralrs33985739
openSNPrs33985739
23andMers33985739
23andMe allrs33985739
SNP Nexus

SNPshotrs33985739
SNPdbers33985739
MSV3drs33985739
GWAS Ctlgrs33985739
Max Magnitude0
OMIM141900
Desc
Variant0409
Relatedalso
OMIM141900
Desc
Variant0510
Relatedalso
ClinVar
Risk rs33985739(A,G;A,G)
Alt rs33985739(A,G;A,G)
Reference rs33985739(C;C)
Significance Other
Disease HEMOGLOBIN KODAIRA II HEMOGLOBIN KODAIRA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KODAIRA II HEMOGLOBIN KODAIRA
Reversed 1
HGVS NC_000011.9:g.5246831G>C; NC_000011.9:g.5246831G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016868.2, RCV000016760.2,


[PMID 1634367] Hb Kodaira [beta 146(HC3)His----Gln]: a new beta chain variant with an amino acid substitution at the C-terminus.


[PMID 12144067] Hb Kodaira II: a high oxygen affinity variant with a novel mutation in the beta-globin gene and phenotypic identity to Hb Kodaira.


[PMID 12603092] Hb Kodaira II [beta146(HC3)His --> Gln] detected in Thailand.