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rs33969677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GT;GT) 0 common in clinvar
Make rs33969677(A;A)
Make rs33969677(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225714
GeneHBB
is asnp
is mentioned by
dbSNPrs33969677
ebirs33969677
HLIrs33969677
Exacrs33969677
Varsomers33969677
Maprs33969677
PheGenIrs33969677
hapmaprs33969677
1000 genomesrs33969677
hgdprs33969677
ensemblrs33969677
gopubmedrs33969677
geneviewrs33969677
scholarrs33969677
googlers33969677
pharmgkbrs33969677
gwascentralrs33969677
openSNPrs33969677
23andMers33969677
23andMe allrs33969677
SNP Nexus

SNPshotrs33969677
SNPdbers33969677
MSV3drs33969677
GWAS Ctlgrs33969677
Merged fromRs121909812, Rs121909818
Max Magnitude0
OMIM141900
Desc
Variant0140
Relatedalso
OMIM141900
Desc
Variant0252
Relatedalso
ClinVar
Risk rs33969677(A,C,T;A,C,T)
Alt rs33969677(A,C,T;A,C,T)
Reference rs33969677(G;G)
Significance Other
Disease HEMOGLOBIN JOHNSTOWN HEMOGLOBIN SAN DIEGO beta Thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN JOHNSTOWN HEMOGLOBIN SAN DIEGO beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246944C>G; NC_000011.9:g.5246944C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016428.2, RCV000016585.2, RCV000169614.1,


[PMID 1201208] Erythraemia due to haemoglobin San Diego.


[PMID 4808644OA-icon.png] Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109 (G11)val--met).


[PMID 4808645OA-icon.png] Hemoglobin San Diego (beta 109 (G11) val--met). Crystal structure of the deoxy form.


[PMID 6863429] Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography.


[PMID 7615400] Compound heterozygosity for two beta chain variants: Hb S [beta 6(A3)Glu-->Val] and the high affinity variant Hb San Diego [beta 109(G11)Val-->Met].


[PMID 2272838] Hb Johnstown [beta 109 (G11) Val----Leu]: a new electrophoretically silent variant that causes erythrocytosis.


[PMID 11074558] Hb Johnstown [beta 109 (G11) Val-->Leu]: second case described and associated for the first time with beta(0)-thalassemia in two Spanish families.


[PMID 15658189] Hb Johnstown [beta109(G11)Val-->Leu]: A high oxygen affinity variant associated with beta0-thalassemia.