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

rs33952543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33952543(A;G)
Make rs33952543(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226659
GeneHBB
is asnp
is mentioned by
dbSNPrs33952543
ebirs33952543
HLIrs33952543
Exacrs33952543
Varsomers33952543
Maprs33952543
PheGenIrs33952543
hapmaprs33952543
1000 genomesrs33952543
hgdprs33952543
ensemblrs33952543
gopubmedrs33952543
geneviewrs33952543
scholarrs33952543
googlers33952543
pharmgkbrs33952543
gwascentralrs33952543
openSNPrs33952543
23andMers33952543
23andMe allrs33952543
SNP Nexus

SNPshotrs33952543
SNPdbers33952543
MSV3drs33952543
GWAS Ctlgrs33952543
Max Magnitude0
OMIM141900
Desc
Variant0469
Relatedalso
ClinVar
Risk rs33952543(C,G,T;C,G,T)
Alt rs33952543(C,G,T;C,G,T)
Reference rs33952543(A;A)
Significance Other
Disease HEMOGLOBIN COSTA RICA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN COSTA RICA
Reversed 1
HGVS NC_000011.9:g.5247889T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016822.2,


[PMID 12908803] Identification of a new hemoglobin variant: Hb St. Joseph's [beta77(EF1)His-->Leu].