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rs35004220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs35004220(A;A)
Make rs35004220(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226820
GeneHBB
is asnp
is mentioned by
dbSNPrs35004220
ebirs35004220
HLIrs35004220
Exacrs35004220
Varsomers35004220
Maprs35004220
PheGenIrs35004220
hapmaprs35004220
1000 genomesrs35004220
hgdprs35004220
ensemblrs35004220
gopubmedrs35004220
geneviewrs35004220
scholarrs35004220
googlers35004220
pharmgkbrs35004220
gwascentralrs35004220
openSNPrs35004220
23andMers35004220
23andMe allrs35004220
SNP Nexus

SNPshotrs35004220
SNPdbers35004220
MSV3drs35004220
GWAS Ctlgrs35004220
Max Magnitude0
Beta Thalassemia

https://www.23andme.com/you/journal/beta_thalassemia/techreport/


ClinVar
Risk rs35004220(A;A)
Alt rs35004220(A;A)
Reference rs35004220(G;G)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia Beta thalassemia major
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia Beta thalassemia major
Reversed 1
HGVS NC_000011.9:g.5248050C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016712.26, RCV000020343.1, RCV000030008.1,



[PMID 1769663] Molecular heterogeneity of beta-thalassemia in mestizo Mexicans.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 6264391OA-icon.png] An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.


[PMID 6264477OA-icon.png] Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.


[PMID 8619407] Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles.


[PMID 11857746] Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.


[PMID 1390250] The beta-thalassaemia mutations in the population of Cyprus.