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rs35887507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35887507(A;A)
Make rs35887507(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5234193
GeneHBD
is asnp
is mentioned by
dbSNPrs35887507
ebirs35887507
HLIrs35887507
Exacrs35887507
Varsomers35887507
Maprs35887507
PheGenIrs35887507
hapmaprs35887507
1000 genomesrs35887507
hgdprs35887507
ensemblrs35887507
gopubmedrs35887507
geneviewrs35887507
scholarrs35887507
googlers35887507
pharmgkbrs35887507
gwascentralrs35887507
openSNPrs35887507
23andMers35887507
23andMe allrs35887507
SNP Nexus

SNPshotrs35887507
SNPdbers35887507
MSV3drs35887507
GWAS Ctlgrs35887507
Max Magnitude0
OMIM142000
Desc
Variant0035
Relatedalso


ClinVar
Risk rs35887507(A;A)
Alt rs35887507(A;A)
Reference rs35887507(G;G)
Significance Pathogenic
Disease Delta-0-thalassemia
Variation info
Gene HBD
CLNDBN Delta-0-thalassemia
Reversed 1
HGVS NC_000011.9:g.5255423C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016229.25,



[PMID 8118467] A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37.