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rs63750345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750345(A;A)
Make rs63750345(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5233985
GeneHBD
is asnp
is mentioned by
dbSNPrs63750345
ebirs63750345
HLIrs63750345
Exacrs63750345
Varsomers63750345
Maprs63750345
PheGenIrs63750345
hapmaprs63750345
1000 genomesrs63750345
hgdprs63750345
ensemblrs63750345
gopubmedrs63750345
geneviewrs63750345
scholarrs63750345
googlers63750345
pharmgkbrs63750345
gwascentralrs63750345
openSNPrs63750345
23andMers63750345
23andMe allrs63750345
SNP Nexus

SNPshotrs63750345
SNPdbers63750345
MSV3drs63750345
GWAS Ctlgrs63750345
Max Magnitude0
OMIM142000
Desc
Variant0043
Relatedalso


ClinVar
Risk rs63750345(A;A)
Alt rs63750345(A;A)
Reference rs63750345(T;T)
Significance Pathogenic
Disease delta Thalassemia
Variation info
Gene HBD
CLNDBN delta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5255215A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016237.25,



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