Have questions? Visit https://www.reddit.com/r/SNPedia

rs33974936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GA;GA) 0 common in clinvar
Make rs33974936(A;A)
Make rs33974936(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226778
GeneHBB
is asnp
is mentioned by
dbSNPrs33974936
ebirs33974936
HLIrs33974936
Exacrs33974936
Varsomers33974936
Maprs33974936
PheGenIrs33974936
hapmaprs33974936
1000 genomesrs33974936
hgdprs33974936
ensemblrs33974936
gopubmedrs33974936
geneviewrs33974936
scholarrs33974936
googlers33974936
pharmgkbrs33974936
gwascentralrs33974936
openSNPrs33974936
23andMers33974936
23andMe allrs33974936
SNP Nexus

SNPshotrs33974936
SNPdbers33974936
MSV3drs33974936
GWAS Ctlgrs33974936
Merged fromRs111033583
Max Magnitude0
OMIM141900
Desc
Variant0315
Relatedalso
ClinVar
Risk rs33974936(A,T;A,T)
Alt rs33974936(A,T;A,T)
Reference rs33974936(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248008C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016659.26, RCV000169502.1,


[PMID 1520612] High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta.


[PMID 3006832] Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.


[PMID 7852087] Molecular characterization of beta-thalassemia in north Jordan.