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rs34224604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(I;I) 0
Make rs34224604(-;-)
Make rs34224604(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234128
GeneHBD
is asnp
is mentioned by
dbSNPrs34224604
ebirs34224604
HLIrs34224604
Exacrs34224604
Varsomers34224604
Maprs34224604
PheGenIrs34224604
hapmaprs34224604
1000 genomesrs34224604
hgdprs34224604
ensemblrs34224604
gopubmedrs34224604
geneviewrs34224604
scholarrs34224604
googlers34224604
pharmgkbrs34224604
gwascentralrs34224604
openSNPrs34224604
23andMers34224604
23andMe allrs34224604
SNP Nexus

SNPshotrs34224604
SNPdbers34224604
MSV3drs34224604
GWAS Ctlgrs34224604
Max Magnitude0
OMIM142000
Desc
Variant0023
Relatedalso


ClinVar
Risk rs34224604(;)
Alt rs34224604(;)
Reference rs34224604(A;A)
Significance Pathogenic
Disease Delta-zero-thalassemia
Variation info
Gene HBD
CLNDBN Delta-zero-thalassemia, knossos type
Reversed 1
HGVS NC_000011.9:g.5255357delT
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016215.25,



[PMID 1873227] A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families.