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rs63750475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(I;I) 0
Make rs63750475(-;-)
Make rs63750475(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227018
GeneHBB
is asnp
is mentioned by
dbSNPrs63750475
ebirs63750475
HLIrs63750475
Exacrs63750475
Varsomers63750475
Maprs63750475
PheGenIrs63750475
hapmaprs63750475
1000 genomesrs63750475
hgdprs63750475
ensemblrs63750475
gopubmedrs63750475
geneviewrs63750475
scholarrs63750475
googlers63750475
pharmgkbrs63750475
gwascentralrs63750475
openSNPrs63750475
23andMers63750475
23andMe allrs63750475
SNP Nexus

SNPshotrs63750475
SNPdbers63750475
MSV3drs63750475
GWAS Ctlgrs63750475
Max Magnitude0
OMIM141900
Desc
Variant0419
Relatedalso


ClinVar
Risk rs63750475(;)
Alt rs63750475(;)
Reference rs63750475(G;G)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248248delC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016770.26,



[PMID 1734721OA-icon.png] Molecular characterization of beta-thalassemia in the Sardinian population.