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rs33914359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(AA;AA) 0 common in clinvar
Make rs33914359(A;G)
Make rs33914359(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226606
GeneHBB
is asnp
is mentioned by
dbSNPrs33914359
ebirs33914359
HLIrs33914359
Exacrs33914359
Varsomers33914359
Maprs33914359
PheGenIrs33914359
hapmaprs33914359
1000 genomesrs33914359
hgdprs33914359
ensemblrs33914359
gopubmedrs33914359
geneviewrs33914359
scholarrs33914359
googlers33914359
pharmgkbrs33914359
gwascentralrs33914359
openSNPrs33914359
23andMers33914359
23andMe allrs33914359
SNP Nexus

SNPshotrs33914359
SNPdbers33914359
MSV3drs33914359
GWAS Ctlgrs33914359
Merged fromRs121909814
Max Magnitude0
OMIM141900
Desc
Variant0010
Relatedalso
OMIM141900
Desc
Variant0188
Relatedalso
ClinVar
Risk rs33914359(G;G)
Alt rs33914359(G;G)
Reference rs33914359(A;A)
Significance Other
Disease HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS) HEMOGLOBIN JENKINS HEMOGLOBIN HOPKINS 1 HEMOGLOBIN KENWOOD
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS) HEMOGLOBIN JENKINS HEMOGLOBIN HOPKINS 1 HEMOGLOBIN KENWOOD
Reversed 1
HGVS NC_000011.9:g.5247836T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016251.2, RCV000016504.2, RCV000016505.2, RCV000016506.2, RCV000016507.2, RCV000016508.2,


[PMID 826073] A case with both hemoglobins C and N-Baltimore.


[PMID 5886928] An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore).


[PMID 5961314] Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu.


[PMID 6034218] Primary structure of Hopkins-1 haemoglobin.