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rs35654785

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs35654785(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5234342
GeneHBD
is asnp
is mentioned by
dbSNPrs35654785
ebirs35654785
HLIrs35654785
Exacrs35654785
Varsomers35654785
Maprs35654785
PheGenIrs35654785
hapmaprs35654785
1000 genomesrs35654785
hgdprs35654785
ensemblrs35654785
gopubmedrs35654785
geneviewrs35654785
scholarrs35654785
googlers35654785
pharmgkbrs35654785
gwascentralrs35654785
openSNPrs35654785
23andMers35654785
23andMe allrs35654785
SNP Nexus

SNPshotrs35654785
SNPdbers35654785
MSV3drs35654785
GWAS Ctlgrs35654785
Max Magnitude0
OMIM142000
Desc
Variant0029
Relatedalso


ClinVar
Risk rs35654785(C;C)
Alt rs35654785(C;C)
Reference rs35654785(G;G)
Significance Pathogenic
Disease delta Thalassemia
Variation info
Gene HBD
CLNDBN delta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5255572C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016223.25,



[PMID 2291578] Molecular analysis of atypical beta-thalassemia heterozygotes.