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

rs35497102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
(I;I) 0
Make rs35497102(-;-)
Make rs35497102(-;AA)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226996
GeneHBB
is asnp
is mentioned by
dbSNPrs35497102
ebirs35497102
HLIrs35497102
Exacrs35497102
Varsomers35497102
Maprs35497102
PheGenIrs35497102
hapmaprs35497102
1000 genomesrs35497102
hgdprs35497102
ensemblrs35497102
gopubmedrs35497102
geneviewrs35497102
scholarrs35497102
googlers35497102
pharmgkbrs35497102
gwascentralrs35497102
openSNPrs35497102
23andMers35497102
23andMe allrs35497102
SNP Nexus

SNPshotrs35497102
SNPdbers35497102
MSV3drs35497102
GWAS Ctlgrs35497102
Max Magnitude0
OMIM141900
Desc
Variant0322
Relatedalso


ClinVar
Risk rs35497102(;)
Alt rs35497102(;)
Reference rs35497102(AA;AA)
Significance Pathogenic
Disease beta^0^ Thalassemia alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248226_5248227delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016669.23, RCV000020330.1, RCV000029972.1,



[PMID 6985481] Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.


[PMID 7795641] Sequence analysis reveals a beta-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 6292840OA-icon.png] mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.


[PMID 6310991OA-icon.png] beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.


[PMID 15108284] Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.


[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).


[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.


[PMID 2430648] Beta zero-thalassemia in association with a gamma-globin gene quadruplication.


[PMID 6280057] Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.