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rs606231218

From SNPedia

Merged intors35532010
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231218(-;C)
Make rs606231218(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position5226936
GeneHBB
is asnp
is mentioned by
dbSNPrs606231218
dbSNP (classic)rs606231218
ClinGenrs606231218
ebirs606231218
HLIrs606231218
Exacrs606231218
Gnomadrs606231218
Varsomers606231218
LitVarrs606231218
Maprs606231218
PheGenIrs606231218
Biobankrs606231218
1000 genomesrs606231218
hgdprs606231218
ensemblrs606231218
geneviewrs606231218
scholarrs606231218
googlers606231218
pharmgkbrs606231218
gwascentralrs606231218
openSNPrs606231218
23andMers606231218
SNPshotrs606231218
SNPdbers606231218
MSV3drs606231218
GWAS Ctlgrs606231218
StatusMerged into rs35532010
Max Magnitude0
ClinVar
Risk rs606231218(C;C)
Alt rs606231218(C;C)
Reference Rs606231218(;)
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.5248168dupG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016689.26, RCV000169441.1,