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rs35894115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
Make rs35894115(-;A)
Make rs35894115(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226748
GeneHBB
is asnp
is mentioned by
dbSNPrs35894115
ebirs35894115
HLIrs35894115
Exacrs35894115
Varsomers35894115
Maprs35894115
PheGenIrs35894115
hapmaprs35894115
1000 genomesrs35894115
hgdprs35894115
ensemblrs35894115
gopubmedrs35894115
geneviewrs35894115
scholarrs35894115
googlers35894115
pharmgkbrs35894115
gwascentralrs35894115
openSNPrs35894115
23andMers35894115
23andMe allrs35894115
SNP Nexus

SNPshotrs35894115
SNPdbers35894115
MSV3drs35894115
GWAS Ctlgrs35894115
Max Magnitude0
OMIM141900
Desc
Variant0395
Relatedalso
ClinVar
Risk rs35894115(A;A)
Alt rs35894115(A;A)
Reference rs35894115(;)
Significance Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247979dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000016744.26,


[PMID 1698102] Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.


[PMID 2283303] A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient.