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rs33926764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33926764(A;C)
Make rs33926764(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226997
GeneHBB
is asnp
is mentioned by
dbSNPrs33926764
dbSNP (classic)rs33926764
ClinGenrs33926764
ebirs33926764
HLIrs33926764
Exacrs33926764
Gnomadrs33926764
Varsomers33926764
LitVarrs33926764
Maprs33926764
PheGenIrs33926764
Biobankrs33926764
1000 genomesrs33926764
hgdprs33926764
ensemblrs33926764
geneviewrs33926764
scholarrs33926764
googlers33926764
pharmgkbrs33926764
gwascentralrs33926764
openSNPrs33926764
23andMers33926764
SNPshotrs33926764
SNPdbers33926764
MSV3drs33926764
GWAS Ctlgrs33926764
Max Magnitude0
OMIM141900
Desc
Variant0135
Relatedalso
OMIM141900
Desc
Variant0191
Relatedalso
ClinVar
Risk rs33926764(C;C) rs33926764(G;G)
Alt rs33926764(C;C) rs33926764(G;G)
Reference Rs33926764(A;A)
Significance Other
Disease HEMOGLOBIN N (TIMONE) HEMOGLOBIN J (LUHE)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN N (TIMONE) HEMOGLOBIN J (LUHE)
Reversed 1
HGVS NC_000011.9:g.5248227T>C; NC_000011.9:g.5248227T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein) HBVAR
CLNACC RCV000016511.2, RCV000016422.3,


[PMID 2634671] Hb N-Timone [alpha 2 beta 2(8)(A5)Lys----Glu]: a new fast-moving variant with normal stability and oxygen affinity.