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rs33950093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33950093(A;A)
Make rs33950093(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226958
GeneHBB
is asnp
is mentioned by
dbSNPrs33950093
ebirs33950093
HLIrs33950093
Exacrs33950093
Varsomers33950093
Maprs33950093
PheGenIrs33950093
hapmaprs33950093
1000 genomesrs33950093
hgdprs33950093
ensemblrs33950093
gopubmedrs33950093
geneviewrs33950093
scholarrs33950093
googlers33950093
pharmgkbrs33950093
gwascentralrs33950093
openSNPrs33950093
23andMers33950093
23andMe allrs33950093
SNP Nexus

SNPshotrs33950093
SNPdbers33950093
MSV3drs33950093
GWAS Ctlgrs33950093
Max Magnitude0
OMIM141900
Desc
Variant0052
Relatedalso
OMIM141900
Desc
Variant0309
Relatedalso
OMIM141900
Desc
Variant0431
Relatedalso
ClinVar
Risk rs33950093(A,C,T;A,C,T)
Alt rs33950093(A,C,T;A,C,T)
Reference rs33950093(G;G)
Significance Other
Disease HEMOGLOBIN YUSA HEMOGLOBIN KARLSKOGA HEMOGLOBIN COCODY
Variation info
Gene HBB
CLNDBN HEMOGLOBIN YUSA HEMOGLOBIN KARLSKOGA HEMOGLOBIN COCODY
Reversed 1
HGVS NC_000011.9:g.5248188C>A; NC_000011.9:g.5248188C>G; NC_000011.9:g.5248188C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016653.2, RCV000016784.2, RCV000016303.2,


[PMID 2384310] Hb Cocody [beta 21(B3)Asp----Asn] and Hb Yusa [beta 21(B3)ASP----TYR] found in Japan.


[PMID 7216815] Hemoglobin Yusa (beta 21 (B3) Asp leads to Tyr), a new abnormal hemoglobin found in Japan.


[PMID 6271242] Application of high--performance liquid chromatography to abnormal hemoglobin studies. Characterization of hemoglobins D in Ivory Coast and description of a new variant hb Cocody (beta 21 (B3) Asp leads to Asn).


[PMID 8330972] Hb Karlskoga or alpha 2 beta (2)21(B3) Asp-->His: a new slow-moving variant found in Sweden.