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rs63751208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63751208(C;T)
Make rs63751208(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227172
GeneHBB
is asnp
is mentioned by
dbSNPrs63751208
ebirs63751208
HLIrs63751208
Exacrs63751208
Varsomers63751208
Maprs63751208
PheGenIrs63751208
hapmaprs63751208
1000 genomesrs63751208
hgdprs63751208
ensemblrs63751208
gopubmedrs63751208
geneviewrs63751208
scholarrs63751208
googlers63751208
pharmgkbrs63751208
gwascentralrs63751208
openSNPrs63751208
23andMers63751208
23andMe allrs63751208
SNP Nexus

SNPshotrs63751208
SNPdbers63751208
MSV3drs63751208
GWAS Ctlgrs63751208
Max Magnitude0
OMIM141900
Desc
Variant0370
Relatedalso


ClinVar
Risk rs63751208(T;T)
Alt rs63751208(T;T)
Reference rs63751208(C;C)
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.5248402G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016719.26, RCV000169081.1,



[PMID 2713503] A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia.


[PMID 2346726] The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.


[PMID 7909640] Binding of nuclear factors to the proximal and distal CACCC motifs of the beta-globin gene promoter: implications for the -101 (C-->T) 'silent' beta-thalassemia mutation.


[PMID 8172199] Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening.


[PMID 8980256] Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype.