Have questions? Visit https://www.reddit.com/r/SNPedia

rs35152987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35152987(G;T)
Make rs35152987(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5234352
GeneHBD
is asnp
is mentioned by
dbSNPrs35152987
ebirs35152987
HLIrs35152987
Exacrs35152987
Varsomers35152987
Maprs35152987
PheGenIrs35152987
hapmaprs35152987
1000 genomesrs35152987
hgdprs35152987
ensemblrs35152987
gopubmedrs35152987
geneviewrs35152987
scholarrs35152987
googlers35152987
pharmgkbrs35152987
gwascentralrs35152987
openSNPrs35152987
23andMers35152987
23andMe allrs35152987
SNP Nexus

SNPshotrs35152987
SNPdbers35152987
MSV3drs35152987
GWAS Ctlgrs35152987
GMAF0.0009183
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM142000
Desc
Variant0028
Relatedalso


ClinVar
Risk rs35152987(T;T)
Alt rs35152987(T;T)
Reference rs35152987(G;G)
Significance Other
Disease delta Thalassemia HEMOGLOBIN A(2) YIALOUSA
Variation info
Gene HBD
CLNDBN delta Thalassemia HEMOGLOBIN A(2) YIALOUSA
Reversed 1
HGVS NC_000011.9:g.5255582C>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016221.25, RCV000016222.1,



[PMID 1688506] Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.


[PMID 1742490] Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.


[PMID 3401592] Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.


[PMID 7504402] A novel Mediterranean "delta beta-thalassemia" determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis.


[PMID 8364213] Analysis of delta-globin gene mutations in Greek cypriots.


[PMID 12402333] Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.