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rs33965000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33965000(C;T)
Make rs33965000(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226590
GeneHBB
is asnp
is mentioned by
dbSNPrs33965000
dbSNP (classic)rs33965000
ClinGenrs33965000
ebirs33965000
HLIrs33965000
Exacrs33965000
Gnomadrs33965000
Varsomers33965000
LitVarrs33965000
Maprs33965000
PheGenIrs33965000
Biobankrs33965000
1000 genomesrs33965000
hgdprs33965000
ensemblrs33965000
geneviewrs33965000
scholarrs33965000
googlers33965000
pharmgkbrs33965000
gwascentralrs33965000
openSNPrs33965000
23andMers33965000
SNPshotrs33965000
SNPdbers33965000
MSV3drs33965000
GWAS Ctlgrs33965000
Max Magnitude0
OMIM141900
Desc
Variant0028
Relatedalso
OMIM141900
Desc
Variant0195
Relatedalso
ClinVar
Risk rs33965000(G;G) rs33965000(T;T)
Alt rs33965000(G;G) rs33965000(T;T)
Reference Rs33965000(C;C)
Significance Other
Disease HEMOGLOBIN BRIGHAM HEMOGLOBIN NEW MEXICO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BRIGHAM HEMOGLOBIN NEW MEXICO
Reversed 1
HGVS NC_000011.9:g.5247820G>A; NC_000011.9:g.5247820G>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016271.3, RCV000016515.3,


[PMID 4719677OA-icon.png] Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis.


[PMID 3840697] Hemoglobin New Mexico: beta 100 (G2) Pro----Arg. A variant hemoglobin associated with erythrocytosis.