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rs41417446

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(I;I) 0
(TTT;TTT) 0 common in clinvar
Make rs41417446(-;-)
Make rs41417446(-;TTT)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226763
GeneHBB
is asnp
is mentioned by
dbSNPrs41417446
dbSNP (classic)rs41417446
ClinGenrs41417446
ebirs41417446
HLIrs41417446
Exacrs41417446
Gnomadrs41417446
Varsomers41417446
LitVarrs41417446
Maprs41417446
PheGenIrs41417446
Biobankrs41417446
1000 genomesrs41417446
hgdprs41417446
ensemblrs41417446
geneviewrs41417446
scholarrs41417446
googlers41417446
pharmgkbrs41417446
gwascentralrs41417446
openSNPrs41417446
23andMers41417446
SNPshotrs41417446
SNPdbers41417446
MSV3drs41417446
GWAS Ctlgrs41417446
Max Magnitude0


ClinVar
Risk rs41417446(-;-)
Alt rs41417446(-;-)
Reference Rs41417446(TTT;TTT)
Significance Pathogenic
Disease Hemoglobinopathy Heinz body anemia
Variation info
Gene HBB
CLNDBN Hemoglobinopathy Heinz body anemia
Reversed 1
HGVS NC_000011.9:g.5247993_5247995delAAA
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016277.3, RCV000016278.26,