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rs33985544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33985544(A;C)
Make rs33985544(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226701
GeneHBB
is asnp
is mentioned by
dbSNPrs33985544
ebirs33985544
HLIrs33985544
Exacrs33985544
Varsomers33985544
Maprs33985544
PheGenIrs33985544
hapmaprs33985544
1000 genomesrs33985544
hgdprs33985544
ensemblrs33985544
gopubmedrs33985544
geneviewrs33985544
scholarrs33985544
googlers33985544
pharmgkbrs33985544
gwascentralrs33985544
openSNPrs33985544
23andMers33985544
23andMe allrs33985544
SNP Nexus

SNPshotrs33985544
SNPdbers33985544
MSV3drs33985544
GWAS Ctlgrs33985544
Max Magnitude0
OMIM141900
Desc
Variant0023
Relatedalso
OMIM141900
Desc
Variant0310
Relatedalso
ClinVar
Risk rs33985544(C,G;C,G)
Alt rs33985544(C,G;C,G)
Reference rs33985544(A;A)
Significance Other
Disease Hemoglobin Zurich HEMOGLOBIN BICETRE
Variation info
Gene HBB
CLNDBN Hemoglobin Zurich HEMOGLOBIN BICETRE
Reversed 1
HGVS NC_000011.9:g.5247931T>C; NC_000011.9:g.5247931T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016654.3, RCV000016268.2,


[PMID 6175783] First Japanese family with the unstable hemoglobin Zurich [beta 63(e7) His leads to Arg].


[PMID 9859934] Molecular diagnosis and characterization of Hb Zurich [beta63(E7)His-->Arg]] carriers in a Kentucky family.


[PMID 3753631] Hb Bicetre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years.