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rs63749819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63749819(-;-)
Make rs63749819(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227002
GeneHBB
is asnp
is mentioned by
dbSNPrs63749819
ebirs63749819
HLIrs63749819
Exacrs63749819
Varsomers63749819
Maprs63749819
PheGenIrs63749819
hapmaprs63749819
1000 genomesrs63749819
hgdprs63749819
ensemblrs63749819
gopubmedrs63749819
geneviewrs63749819
scholarrs63749819
googlers63749819
pharmgkbrs63749819
gwascentralrs63749819
openSNPrs63749819
23andMers63749819
23andMe allrs63749819
SNP Nexus

SNPshotrs63749819
SNPdbers63749819
MSV3drs63749819
GWAS Ctlgrs63749819
Max Magnitude0
ClinVar
Risk rs63749819(;)
Alt rs63749819(;)
Reference rs63749819(A;A)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248232delT
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016674.26,


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


[PMID 2200762] Beta-thalassemia in Bulgaria.


[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.