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rs33980857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33980857(A;A)
Make rs33980857(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227101
GeneHBB
is asnp
is mentioned by
dbSNPrs33980857
ebirs33980857
HLIrs33980857
Exacrs33980857
Varsomers33980857
Maprs33980857
PheGenIrs33980857
hapmaprs33980857
1000 genomesrs33980857
hgdprs33980857
ensemblrs33980857
gopubmedrs33980857
geneviewrs33980857
scholarrs33980857
googlers33980857
pharmgkbrs33980857
gwascentralrs33980857
openSNPrs33980857
23andMers33980857
23andMe allrs33980857
SNP Nexus

SNPshotrs33980857
SNPdbers33980857
MSV3drs33980857
GWAS Ctlgrs33980857
Max Magnitude0
OMIM141900
Desc
Variant0377
Relatedalso
OMIM141900
Desc
Variant0378
Relatedalso
ClinVar
Risk rs33980857(A,C,G;A,C,G)
Alt rs33980857(A,C,G;A,C,G)
Reference rs33980857(T;T)
Significance Pathogenic
Disease Beta-plus-thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248331A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016725.26, RCV000029962.1,


[PMID 1917531] Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.


[PMID 3382401] Beta-thalassemia due to a T----A mutation within the ATA box.


[PMID 2741940OA-icon.png] A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia. [PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.