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rs35661168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs35661168(A;T)
Make rs35661168(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234559
GeneHBD
is asnp
is mentioned by
dbSNPrs35661168
dbSNP (classic)rs35661168
ClinGenrs35661168
ebirs35661168
HLIrs35661168
Exacrs35661168
Gnomadrs35661168
Varsomers35661168
LitVarrs35661168
Maprs35661168
PheGenIrs35661168
Biobankrs35661168
1000 genomesrs35661168
hgdprs35661168
ensemblrs35661168
geneviewrs35661168
scholarrs35661168
googlers35661168
pharmgkbrs35661168
gwascentralrs35661168
openSNPrs35661168
23andMers35661168
SNPshotrs35661168
SNPdbers35661168
MSV3drs35661168
GWAS Ctlgrs35661168
Max Magnitude0
OMIM142000
Desc
Variant0044
Relatedalso
ClinVar
Risk rs35661168(T;T)
Alt rs35661168(T;T)
Reference Rs35661168(A;A)
Significance Pathogenic
Disease delta Thalassemia
Variation info
Gene HBD
CLNDBN delta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5255789T>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016238.25,


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