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rs193922554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs193922554(-;-)
Make rs193922554(-;TG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226688
GeneHBB
is asnp
is mentioned by
dbSNPrs193922554
ebirs193922554
HLIrs193922554
Exacrs193922554
Varsomers193922554
Maprs193922554
PheGenIrs193922554
hapmaprs193922554
1000 genomesrs193922554
hgdprs193922554
ensemblrs193922554
gopubmedrs193922554
geneviewrs193922554
scholarrs193922554
googlers193922554
pharmgkbrs193922554
gwascentralrs193922554
openSNPrs193922554
23andMers193922554
23andMe allrs193922554
SNP Nexus

SNPshotrs193922554
SNPdbers193922554
MSV3drs193922554
GWAS Ctlgrs193922554
Max Magnitude0
ClinVar
Risk rs193922554(;)
Alt rs193922554(;)
Reference rs193922554(TG;TG)
Significance Probable-Pathogenic
Disease Beta thalassemia major
Variation info
Gene HBB
CLNDBN Beta thalassemia major
Reversed 1
HGVS NC_000011.9:g.5247918_5247919delCA
CLNSRC ClinVar LabCorp
CLNACC RCV000029968.1,


[PMID 8257991] Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion.