Have questions? Visit https://www.reddit.com/r/SNPedia

rs33940051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33940051(A;C)
Make rs33940051(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226645
GeneHBB
is asnp
is mentioned by
dbSNPrs33940051
ebirs33940051
HLIrs33940051
Exacrs33940051
Varsomers33940051
Maprs33940051
PheGenIrs33940051
hapmaprs33940051
1000 genomesrs33940051
hgdprs33940051
ensemblrs33940051
gopubmedrs33940051
geneviewrs33940051
scholarrs33940051
googlers33940051
pharmgkbrs33940051
gwascentralrs33940051
openSNPrs33940051
23andMers33940051
23andMe allrs33940051
SNP Nexus

SNPshotrs33940051
SNPdbers33940051
MSV3drs33940051
GWAS Ctlgrs33940051
Max Magnitude0
OMIM141900
Desc
Variant0464
Relatedalso
OMIM141900
Desc
Variant0473
Relatedalso
ClinVar
Risk rs33940051(C,G;C,G)
Alt rs33940051(C,G;C,G)
Reference rs33940051(A;A)
Significance Other
Disease Hb gambara HEMOGLOBIN TSURUMAI
Variation info
Gene HBB
CLNDBN Hb gambara HEMOGLOBIN TSURUMAI
Reversed 1
HGVS NC_000011.9:g.5247875T>C; NC_000011.9:g.5247875T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016827.26, RCV000016818.2,


[PMID 8811318] Hb Tsurumai [beta 82(EF6)Lys-->Gln]: a new Hb variant with high oxygen affinity and erythrocytosis.


[PMID 9255613] A new fast-moving variant causing erythrocytosis and mild hemolysis: Hb Gambara [beta 82(EF6)Lys-->Glu].