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rs193922553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922553(-;-)
Make rs193922553(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226691
GeneHBB
is asnp
is mentioned by
dbSNPrs193922553
ebirs193922553
HLIrs193922553
Exacrs193922553
Varsomers193922553
Maprs193922553
PheGenIrs193922553
hapmaprs193922553
1000 genomesrs193922553
hgdprs193922553
ensemblrs193922553
gopubmedrs193922553
geneviewrs193922553
scholarrs193922553
googlers193922553
pharmgkbrs193922553
gwascentralrs193922553
openSNPrs193922553
23andMers193922553
23andMe allrs193922553
SNP Nexus

SNPshotrs193922553
SNPdbers193922553
MSV3drs193922553
GWAS Ctlgrs193922553
Max Magnitude0
ClinVar
Risk rs193922553(;)
Alt rs193922553(;)
Reference rs193922553(A;A)
Significance Probable-Pathogenic
Disease Beta-thalassemia
Variation info
Gene HBB
CLNDBN Beta-thalassemia, dominant inclusion body type
Reversed 1
HGVS NC_000011.9:g.5247921delT
CLNSRC ClinVar LabCorp
CLNACC RCV000029967.1,


[PMID 20532507] A novel frameshift mutation at codon 66 (HBB:c.del201A) in the beta-globin gene leads to beta-thalassemia.