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rs33931746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs33931746(A;G)
Make rs33931746(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5227099
GeneHBB
is asnp
is mentioned by
dbSNPrs33931746
ebirs33931746
HLIrs33931746
Exacrs33931746
Varsomers33931746
Maprs33931746
PheGenIrs33931746
hapmaprs33931746
1000 genomesrs33931746
hgdprs33931746
ensemblrs33931746
gopubmedrs33931746
geneviewrs33931746
scholarrs33931746
googlers33931746
pharmgkbrs33931746
gwascentralrs33931746
openSNPrs33931746
23andMers33931746
23andMe allrs33931746
SNP Nexus

SNPshotrs33931746
SNPdbers33931746
MSV3drs33931746
GWAS Ctlgrs33931746
Max Magnitude0
OMIM141900
Desc
Variant0380
Relatedalso
OMIM141900
Desc
Variant0381
Relatedalso


ClinVar
Risk rs33931746(C,G;C,G)
Alt rs33931746(C,G;C,G)
Reference rs33931746(A;A)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248329T>C; NC_000011.9:g.5248329T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016729.26, RCV000020325.1, RCV000029960.1, RCV000016728.24,



[PMID 19087310OA-icon.png] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.


[PMID 7076659] beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.


[PMID 6308558OA-icon.png] ATA box transcription mutation in beta-thalassemia.


[PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.