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rs33945546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33945546(G;G)
Make rs33945546(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226951
GeneHBB
is asnp
is mentioned by
dbSNPrs33945546
ebirs33945546
HLIrs33945546
Exacrs33945546
Varsomers33945546
Maprs33945546
PheGenIrs33945546
hapmaprs33945546
1000 genomesrs33945546
hgdprs33945546
ensemblrs33945546
gopubmedrs33945546
geneviewrs33945546
scholarrs33945546
googlers33945546
pharmgkbrs33945546
gwascentralrs33945546
openSNPrs33945546
23andMers33945546
23andMe allrs33945546
SNP Nexus

SNPshotrs33945546
SNPdbers33945546
MSV3drs33945546
GWAS Ctlgrs33945546
Max Magnitude0
OMIM141900
Desc
Variant0180
Relatedalso
OMIM141900
Desc
Variant0271
Relatedalso
OMIM141900
Desc
Variant0533
Relatedalso
ClinVar
Risk rs33945546(A,C,G;A,C,G)
Alt rs33945546(A,C,G;A,C,G)
Reference rs33945546(T;T)
Significance Other
Disease HEMOGLOBIN MIYASHIRO HEMOGLOBIN ZOETERWOUDE HEMOGLOBIN STRASBOURG
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MIYASHIRO HEMOGLOBIN ZOETERWOUDE HEMOGLOBIN STRASBOURG
Reversed 1
HGVS NC_000011.9:g.5248181A>C; NC_000011.9:g.5248181A>G; NC_000011.9:g.5248181A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016496.2, RCV000016885.3, RCV000016608.2,


[PMID 11130] Characterization of beta-D-N-acetylhexosaminidases C and S in fibroplasts from control individuals and patients with Tay-Sachs disease.


[PMID 27380] Haemoglobin Strasbourg alpha2beta2 23 (B5) Val replaced by Asp: revised structure anf functional properties.


[PMID 9494050] Hb Strasbourg [beta 23(B5)Val-->Asp]; a high oxygen affinity variant observed in a German family.


[PMID 7338468] Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the isopropanol test.


[PMID 15768551] Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis.