Have questions? Visit https://www.reddit.com/r/SNPedia

rs35424040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35424040(A;A)
Make rs35424040(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226940
GeneHBB
is asnp
is mentioned by
dbSNPrs35424040
ebirs35424040
HLIrs35424040
Exacrs35424040
Varsomers35424040
Maprs35424040
PheGenIrs35424040
hapmaprs35424040
1000 genomesrs35424040
hgdprs35424040
ensemblrs35424040
gopubmedrs35424040
geneviewrs35424040
scholarrs35424040
googlers35424040
pharmgkbrs35424040
gwascentralrs35424040
openSNPrs35424040
23andMers35424040
23andMe allrs35424040
SNP Nexus

SNPshotrs35424040
SNPdbers35424040
MSV3drs35424040
GWAS Ctlgrs35424040
Max Magnitude0
OMIM141900
Desc
Variant0149
Relatedalso


ClinVar
Risk rs35424040(A,C,T;A,C,T)
Alt rs35424040(A,C,T;A,C,T)
Reference rs35424040(G;G)
Significance Other
Disease HEMOGLOBIN KNOSSOS Beta-plus-thalassemia Beta-knossos-thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KNOSSOS Beta-plus-thalassemia Beta-knossos-thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248170C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016439.2, RCV000016440.26, RCV000016441.26, RCV000169609.1,



[PMID 2467892] Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia.


[PMID 3942130] Hemoglobin Knossos: a clinical, laboratory, and epidemiological study.


[PMID 3955238] Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.


[PMID 6733281] Abnormal processing of beta Knossos RNA.


[PMID 7104238] 'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia.


[PMID 7173395] Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia.