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rs33981098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33981098(A;C)
Make rs33981098(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227102
GeneHBB
is asnp
is mentioned by
dbSNPrs33981098
ebirs33981098
HLIrs33981098
Exacrs33981098
Varsomers33981098
Maprs33981098
PheGenIrs33981098
hapmaprs33981098
1000 genomesrs33981098
hgdprs33981098
ensemblrs33981098
gopubmedrs33981098
geneviewrs33981098
scholarrs33981098
googlers33981098
pharmgkbrs33981098
gwascentralrs33981098
openSNPrs33981098
23andMers33981098
23andMe allrs33981098
SNP Nexus

SNPshotrs33981098
SNPdbers33981098
MSV3drs33981098
GWAS Ctlgrs33981098
Max Magnitude0
OMIM141900
Desc
Variant0376
Relatedalso
ClinVar
Risk rs33981098(C,G;C,G)
Alt rs33981098(C,G;C,G)
Reference rs33981098(A;A)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5248332T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016724.26,


[PMID 3002527] A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia. [PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.