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rs33932548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33932548(A;T)
Make rs33932548(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226695
GeneHBB
is asnp
is mentioned by
dbSNPrs33932548
ebirs33932548
HLIrs33932548
Exacrs33932548
Varsomers33932548
Maprs33932548
PheGenIrs33932548
hapmaprs33932548
1000 genomesrs33932548
hgdprs33932548
ensemblrs33932548
gopubmedrs33932548
geneviewrs33932548
scholarrs33932548
googlers33932548
pharmgkbrs33932548
gwascentralrs33932548
openSNPrs33932548
23andMers33932548
23andMe allrs33932548
SNP Nexus

SNPshotrs33932548
SNPdbers33932548
MSV3drs33932548
GWAS Ctlgrs33932548
Max Magnitude0
OMIM141900
Desc
Variant0121
Relatedalso
OMIM141900
Desc
Variant0493
Relatedalso


ClinVar
Risk rs33932548(T;T)
Alt rs33932548(T;T)
Reference rs33932548(A;A)
Significance Other
Disease HEMOGLOBIN J (ANTAKYA) HEMOGLOBIN CASABLANCA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (ANTAKYA) HEMOGLOBIN CASABLANCA
Reversed 1
HGVS NC_000011.9:g.5247925T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016398.2, RCV000016848.2,



[PMID 3707969] Hb J-Antakya or alpha 2 beta (2)65(E9)Lys----Met in a Turkish family and Hb complutense or alpha 2 beta (2)127(H5)Gln----Glu in a Spanish family; correction of a previously published identification.