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rs34975911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34975911(C;C)
Make rs34975911(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234560
GeneHBD
is asnp
is mentioned by
dbSNPrs34975911
ebirs34975911
HLIrs34975911
Exacrs34975911
Varsomers34975911
Maprs34975911
PheGenIrs34975911
hapmaprs34975911
1000 genomesrs34975911
hgdprs34975911
ensemblrs34975911
gopubmedrs34975911
geneviewrs34975911
scholarrs34975911
googlers34975911
pharmgkbrs34975911
gwascentralrs34975911
openSNPrs34975911
23andMers34975911
23andMe allrs34975911
SNP Nexus

SNPshotrs34975911
SNPdbers34975911
MSV3drs34975911
GWAS Ctlgrs34975911
GMAF0.001377
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM142000
Desc
Variant0030
Relatedalso


ClinVar
Risk rs34975911(C;C)
Alt rs34975911(C;C)
Reference rs34975911(T;T)
Significance Pathogenic
Disease delta Thalassemia
Variation info
Gene HBD
CLNDBN delta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5255790A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016224.25,



[PMID 1515647] Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter.


[PMID 3476164] A delta-globin gene derived from patients with homozygous delta zero-thalassemia functions normally on transient expression in heterologous cells.


[PMID 6158498] Homozygous delta thalassemia in Japan.