Have questions? Visit https://www.reddit.com/r/SNPedia

rs281864901

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864901(-;-)
Make rs281864901(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226662
GeneHBB
is asnp
is mentioned by
dbSNPrs281864901
ebirs281864901
HLIrs281864901
Exacrs281864901
Varsomers281864901
Maprs281864901
PheGenIrs281864901
hapmaprs281864901
1000 genomesrs281864901
hgdprs281864901
ensemblrs281864901
gopubmedrs281864901
geneviewrs281864901
scholarrs281864901
googlers281864901
pharmgkbrs281864901
gwascentralrs281864901
openSNPrs281864901
23andMers281864901
23andMe allrs281864901
SNP Nexus

SNPshotrs281864901
SNPdbers281864901
MSV3drs281864901
GWAS Ctlgrs281864901
Max Magnitude0
ClinVar
Risk rs281864901(;)
Alt rs281864901(;)
Reference rs281864901(C;C)
Significance Pathogenic
Disease beta^0^ Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247892delG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016676.26, RCV000169256.1,


[PMID 7759073] The great heterogeneity of thalassemia molecular defects in Sicily.