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rs80356820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356820(-;-)
Make rs80356820(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226757
GeneHBB
is asnp
is mentioned by
dbSNPrs80356820
ebirs80356820
HLIrs80356820
Exacrs80356820
Varsomers80356820
Maprs80356820
PheGenIrs80356820
hapmaprs80356820
1000 genomesrs80356820
hgdprs80356820
ensemblrs80356820
gopubmedrs80356820
geneviewrs80356820
scholarrs80356820
googlers80356820
pharmgkbrs80356820
gwascentralrs80356820
openSNPrs80356820
23andMers80356820
23andMe allrs80356820
SNP Nexus

SNPshotrs80356820
SNPdbers80356820
MSV3drs80356820
GWAS Ctlgrs80356820
Max Magnitude0
ClinVar
Risk rs80356820(;)
Alt rs80356820(;)
Reference rs80356820(C;C)
Significance Pathogenic
Disease beta^0^ Thalassemia alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247987delG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016671.26, RCV000020329.1, RCV000169145.1,


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