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rs33950542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33950542(C;C)
Make rs33950542(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226665
GeneHBB
is asnp
is mentioned by
dbSNPrs33950542
ebirs33950542
HLIrs33950542
Exacrs33950542
Varsomers33950542
Maprs33950542
PheGenIrs33950542
hapmaprs33950542
1000 genomesrs33950542
hgdprs33950542
ensemblrs33950542
gopubmedrs33950542
geneviewrs33950542
scholarrs33950542
googlers33950542
pharmgkbrs33950542
gwascentralrs33950542
openSNPrs33950542
23andMers33950542
23andMe allrs33950542
SNP Nexus

SNPshotrs33950542
SNPdbers33950542
MSV3drs33950542
GWAS Ctlgrs33950542
Max Magnitude0
OMIM141900
Desc
Variant0012
Relatedalso
OMIM141900
Desc
Variant0013
Relatedalso
OMIM141900
Desc
Variant0217
Relatedalso
ClinVar
Risk rs33950542(C,G;C,G)
Alt rs33950542(C,G;C,G)
Reference rs33950542(T;T)
Significance Other
Disease HEMOGLOBIN PASADENA HEMOGLOBIN ATLANTA HEMOGLOBIN ATLANTA-COVENTRY
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PASADENA HEMOGLOBIN ATLANTA HEMOGLOBIN ATLANTA-COVENTRY
Reversed 1
HGVS NC_000011.9:g.5247895A>C; NC_000011.9:g.5247895A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016545.2, RCV000016254.2, RCV000016255.2,


[PMID 1138885] Hemoglobin Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family.


[PMID 3710819] Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu----Pro and beta 141 Leu deleted.


[PMID 6618886] Two unstable hemoglobins in one individual: Hb Atlanta (beta 75 Leu leads to Pro) and Hb Coventry (beta 141 Leu deleted).


[PMID 8454467] Posttranslational modification of beta 141 Leu associated with the beta 75(E19)Leu-->Pro mutation in Hb Atlanta.


[PMID 7397219] Hemoglobin Pasadena,alpha 2 beta 275(E19)Leu leads to Arg. Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity.