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rs606231217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231217(-;A)
Make rs606231217(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position5226674
GeneHBB
is asnp
is mentioned by
dbSNPrs606231217
dbSNP (classic)rs606231217
ClinGenrs606231217
ebirs606231217
HLIrs606231217
Exacrs606231217
Gnomadrs606231217
Varsomers606231217
LitVarrs606231217
Maprs606231217
PheGenIrs606231217
Biobankrs606231217
1000 genomesrs606231217
hgdprs606231217
ensemblrs606231217
geneviewrs606231217
scholarrs606231217
googlers606231217
pharmgkbrs606231217
gwascentralrs606231217
openSNPrs606231217
23andMers606231217
SNPshotrs606231217
SNPdbers606231217
MSV3drs606231217
GWAS Ctlgrs606231217
Max Magnitude0
ClinVar
Risk rs606231217(A;A)
Alt rs606231217(A;A)
Reference Rs606231217(-;-)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247905dupT
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016675.27,