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rs80356821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTT;CTTT) 0 common in clinvar
(I;I) 0 common genotype
(TCTT;TCTT) 0 common in clinvar
(TTCT;TTCT) 0 common in clinvar
Make rs80356821(-;-)
Make rs80356821(-;TTCT)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226765
GeneHBB
is asnp
is mentioned by
dbSNPrs80356821
dbSNP (classic)rs80356821
ClinGenrs80356821
ebirs80356821
HLIrs80356821
Exacrs80356821
Gnomadrs80356821
Varsomers80356821
LitVarrs80356821
Maprs80356821
PheGenIrs80356821
Biobankrs80356821
1000 genomesrs80356821
hgdprs80356821
ensemblrs80356821
geneviewrs80356821
scholarrs80356821
googlers80356821
pharmgkbrs80356821
gwascentralrs80356821
openSNPrs80356821
23andMers80356821
SNPshotrs80356821
SNPdbers80356821
MSV3drs80356821
GWAS Ctlgrs80356821
Merged fromRs281864900
Max Magnitude0
ClinVar
Risk Rs80356821(CTTT;CTTT) rs80356821(-;-)
Alt Rs80356821(CTTT;CTTT) rs80356821(-;-)
Reference Rs80356821(TTCT;TTCT)
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.5247993_5247996delAAAG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016673.27, RCV000020328.2,