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rs33961459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33961459(C;T)
Make rs33961459(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226687
GeneHBB
is asnp
is mentioned by
dbSNPrs33961459
dbSNP (classic)rs33961459
ClinGenrs33961459
ebirs33961459
HLIrs33961459
Exacrs33961459
Gnomadrs33961459
Varsomers33961459
LitVarrs33961459
Maprs33961459
PheGenIrs33961459
Biobankrs33961459
1000 genomesrs33961459
hgdprs33961459
ensemblrs33961459
geneviewrs33961459
scholarrs33961459
googlers33961459
pharmgkbrs33961459
gwascentralrs33961459
openSNPrs33961459
23andMers33961459
SNPshotrs33961459
SNPdbers33961459
MSV3drs33961459
GWAS Ctlgrs33961459
Max Magnitude0
OMIM141900
Desc
Variant0523
Relatedalso
OMIM141900
Desc
Variant0524
Relatedalso


ClinVar
Risk rs33961459(T;T)
Alt rs33961459(T;T)
Reference Rs33961459(C;C)
Significance Other
Disease HEMOGLOBIN JAMAICA PLAIN HEMOGLOBIN ROCKFORD
Variation info
Gene HBB
CLNDBN HEMOGLOBIN JAMAICA PLAIN HEMOGLOBIN ROCKFORD
Reversed 1
HGVS NC_000011.9:g.5247917G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016879.3, RCV000016880.2,



[PMID 16550507] Hemoglobin Loves Park [beta68 (E12) Leu-->Phe]: report of five cases including one originating from a de novo mutation.