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rs63750954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63750954(A;G)
Make rs63750954(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225486
GeneHBB
is asnp
is mentioned by
dbSNPrs63750954
ebirs63750954
HLIrs63750954
Exacrs63750954
Varsomers63750954
Maprs63750954
PheGenIrs63750954
hapmaprs63750954
1000 genomesrs63750954
hgdprs63750954
ensemblrs63750954
gopubmedrs63750954
geneviewrs63750954
scholarrs63750954
googlers63750954
pharmgkbrs63750954
gwascentralrs63750954
openSNPrs63750954
23andMers63750954
23andMe allrs63750954
SNP Nexus

SNPshotrs63750954
SNPdbers63750954
MSV3drs63750954
GWAS Ctlgrs63750954
Max Magnitude0
OMIM141900
Desc
Variant0386
Relatedalso


ClinVar
Risk rs63750954(G,T;G,T)
Alt rs63750954(G,T;G,T)
Reference rs63750954(A;A)
Significance Pathogenic
Disease Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5246716T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016734.26,



[PMID 2375910] Two novel polyadenylation mutations leading to beta(+)-thalassemia.