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rs193922555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922555(-;-)
Make rs193922555(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226641
GeneHBB
is asnp
is mentioned by
dbSNPrs193922555
ebirs193922555
HLIrs193922555
Exacrs193922555
Varsomers193922555
Maprs193922555
PheGenIrs193922555
hapmaprs193922555
1000 genomesrs193922555
hgdprs193922555
ensemblrs193922555
gopubmedrs193922555
geneviewrs193922555
scholarrs193922555
googlers193922555
pharmgkbrs193922555
gwascentralrs193922555
openSNPrs193922555
23andMers193922555
23andMe allrs193922555
SNP Nexus

SNPshotrs193922555
SNPdbers193922555
MSV3drs193922555
GWAS Ctlgrs193922555
Max Magnitude0
ClinVar
Risk rs193922555(;)
Alt rs193922555(;)
Reference rs193922555(G;G)
Significance Pathogenic
Disease Beta thalassemia major beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta thalassemia major beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247871delC
CLNSRC ClinVar LabCorp
CLNACC RCV000029971.1, RCV000169623.1,


[PMID 1517107] A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia.


[PMID 1740317] Molecular characterization of beta-thalassemia in Czechoslovakia.


[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.


[PMID 9401495] Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.


[PMID 16311287] Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.


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