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rs63750532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750532(-;-)
Make rs63750532(-;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226780
GeneHBB
is asnp
is mentioned by
dbSNPrs63750532
ebirs63750532
HLIrs63750532
Exacrs63750532
Varsomers63750532
Maprs63750532
PheGenIrs63750532
hapmaprs63750532
1000 genomesrs63750532
hgdprs63750532
ensemblrs63750532
gopubmedrs63750532
geneviewrs63750532
scholarrs63750532
googlers63750532
pharmgkbrs63750532
gwascentralrs63750532
openSNPrs63750532
23andMers63750532
23andMe allrs63750532
SNP Nexus

SNPshotrs63750532
SNPdbers63750532
MSV3drs63750532
GWAS Ctlgrs63750532
Max Magnitude0
OMIM141900
Desc
Variant0341
Relatedalso
ClinVar
Risk rs63750532(;)
Alt rs63750532(;)
Reference rs63750532(T;T)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248010delA
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016688.27,


[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.


[PMID 1986379OA-icon.png] Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.