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

rs33952147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33952147(C;C)
Make rs33952147(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226633
GeneHBB
is asnp
is mentioned by
dbSNPrs33952147
ebirs33952147
HLIrs33952147
Exacrs33952147
Varsomers33952147
Maprs33952147
PheGenIrs33952147
hapmaprs33952147
1000 genomesrs33952147
hgdprs33952147
ensemblrs33952147
gopubmedrs33952147
geneviewrs33952147
scholarrs33952147
googlers33952147
pharmgkbrs33952147
gwascentralrs33952147
openSNPrs33952147
23andMers33952147
23andMe allrs33952147
SNP Nexus

SNPshotrs33952147
SNPdbers33952147
MSV3drs33952147
GWAS Ctlgrs33952147
Max Magnitude0
OMIM141900
Desc
Variant0223
Relatedalso
OMIM141900
Desc
Variant0522
Relatedalso


ClinVar
Risk rs33952147(A,C;A,C)
Alt rs33952147(A,C;A,C)
Reference rs33952147(G;G)
Significance Other
Disease HEMOGLOBIN POISSY HEMOGLOBIN CARDARELLI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN POISSY HEMOGLOBIN CARDARELLI
Reversed 1
HGVS NC_000011.9:g.5247863C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016553.2, RCV000016878.2,



[PMID 15182052] Hb Cardarelli [beta86(F2)Ala-->Pro]: a new unstable and hyperaffine variant in association with beta(+)-thalassemia.