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rs36015961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs36015961(C;C)
Make rs36015961(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5225698
GeneHBB
is asnp
is mentioned by
dbSNPrs36015961
ebirs36015961
HLIrs36015961
Exacrs36015961
Varsomers36015961
Maprs36015961
PheGenIrs36015961
hapmaprs36015961
1000 genomesrs36015961
hgdprs36015961
ensemblrs36015961
gopubmedrs36015961
geneviewrs36015961
scholarrs36015961
googlers36015961
pharmgkbrs36015961
gwascentralrs36015961
openSNPrs36015961
23andMers36015961
23andMe allrs36015961
SNP Nexus

SNPshotrs36015961
SNPdbers36015961
MSV3drs36015961
GWAS Ctlgrs36015961
Max Magnitude0
OMIM141900
Desc
Variant0424
Relatedalso


ClinVar
Risk rs36015961(C;C)
Alt rs36015961(C;C)
Reference rs36015961(T;T)
Significance Other
Disease Beta thalassemia intermedia HEMOGLOBIN BRESCIA HEMOGLOBIN DURHAM-N.C.
Variation info
Gene HBB
CLNDBN Beta thalassemia intermedia HEMOGLOBIN BRESCIA HEMOGLOBIN DURHAM-N.C.
Reversed 1
HGVS NC_000011.9:g.5246928A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016775.32, RCV000016776.8, RCV000016777.8,



[PMID 8037185] Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.


[PMID 8111050] A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.


[PMID 11300352] A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.