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rs35324967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35324967(A;A)
Make rs35324967(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5232765
GeneHBD
is asnp
is mentioned by
dbSNPrs35324967
ebirs35324967
HLIrs35324967
Exacrs35324967
Varsomers35324967
Maprs35324967
PheGenIrs35324967
hapmaprs35324967
1000 genomesrs35324967
hgdprs35324967
ensemblrs35324967
gopubmedrs35324967
geneviewrs35324967
scholarrs35324967
googlers35324967
pharmgkbrs35324967
gwascentralrs35324967
openSNPrs35324967
23andMers35324967
23andMe allrs35324967
SNP Nexus

SNPshotrs35324967
SNPdbers35324967
MSV3drs35324967
GWAS Ctlgrs35324967
Max Magnitude0
OMIM142000
Desc
Variant0026
Relatedalso


ClinVar
Risk rs35324967(A;A)
Alt rs35324967(A;A)
Reference rs35324967(G;G)
Significance Pathogenic
Disease delta Thalassemia
Variation info
Gene HBD
CLNDBN delta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5253995C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016219.25,



[PMID 1309671] Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.