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rs33974228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33974228(A;A)
Make rs33974228(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226988
GeneHBB
is asnp
is mentioned by
dbSNPrs33974228
ebirs33974228
HLIrs33974228
Exacrs33974228
Varsomers33974228
Maprs33974228
PheGenIrs33974228
hapmaprs33974228
1000 genomesrs33974228
hgdprs33974228
ensemblrs33974228
gopubmedrs33974228
geneviewrs33974228
scholarrs33974228
googlers33974228
pharmgkbrs33974228
gwascentralrs33974228
openSNPrs33974228
23andMers33974228
23andMe allrs33974228
SNP Nexus

SNPshotrs33974228
SNPdbers33974228
MSV3drs33974228
GWAS Ctlgrs33974228
Max Magnitude0
OMIM141900
Desc
Variant0099
Relatedalso
OMIM141900
Desc
Variant0446
Relatedalso
OMIM141900
Desc
Variant0507
Relatedalso
ClinVar
Risk rs33974228(A,T;A,T)
Alt rs33974228(A,T;A,T)
Reference rs33974228(G;G)
Significance Other
Disease HEMOGLOBIN WASHTENAW HEMOGLOBIN HAMILTON HEMOGLOBIN O (TIBESTI)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN WASHTENAW HEMOGLOBIN HAMILTON HEMOGLOBIN O (TIBESTI)
Reversed 1
HGVS NC_000011.9:g.5248218C>A; NC_000011.9:g.5248218C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016800.2, RCV000016370.2, RCV000016863.2,


[PMID 1428944] Hb H disease in association with the silent beta chain variant Hb Hamilton or alpha 2 beta 2(11)(A8)Val----Ile.


[PMID 1610915] Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique.


[PMID 6695908] Hemoglobin Hamilton or alpha 2 beta 2 11(A8)Val leads to Ile: a silent beta-chain variant detected by Triton X-100 acid-urea polyacrylamide gel electrophoresis.