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rs33985847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(CT;CT) 0 common in clinvar
Make rs33985847(A;A)
Make rs33985847(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226662
GeneHBB
is asnp
is mentioned by
dbSNPrs33985847
ebirs33985847
HLIrs33985847
Exacrs33985847
Varsomers33985847
Maprs33985847
PheGenIrs33985847
hapmaprs33985847
1000 genomesrs33985847
hgdprs33985847
ensemblrs33985847
gopubmedrs33985847
geneviewrs33985847
scholarrs33985847
googlers33985847
pharmgkbrs33985847
gwascentralrs33985847
openSNPrs33985847
23andMers33985847
23andMe allrs33985847
SNP Nexus

SNPshotrs33985847
SNPdbers33985847
MSV3drs33985847
GWAS Ctlgrs33985847
Merged fromRs121909811
Max Magnitude0
OMIM141900
Desc
Variant0127
Relatedalso
ClinVar
Risk rs33985847(A,T;A,T)
Alt rs33985847(A,T;A,T)
Reference rs33985847(C;C)
Significance Other
Disease HEMOGLOBIN J (CHICAGO)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (CHICAGO)
Reversed 1
HGVS NC_000011.9:g.5247892G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016413.2,


[PMID 163659] Hemoglobin J-Chicago (beta76(E20) Ala yields Asp): a new hemoglobin variant resulting from substitution of an external residue.


[PMID 9494051] A case of Hb J-Chicago [beta 76(E20)Ala-->Asp] in a Spanish family.