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rs606231215

From SNPedia

Merged intors34224604
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231215(-;-)
Make rs606231215(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position5234127
GeneHBD
is asnp
is mentioned by
dbSNPrs606231215
dbSNP (classic)rs606231215
ClinGenrs606231215
ebirs606231215
HLIrs606231215
Exacrs606231215
Gnomadrs606231215
Varsomers606231215
LitVarrs606231215
Maprs606231215
PheGenIrs606231215
Biobankrs606231215
1000 genomesrs606231215
hgdprs606231215
ensemblrs606231215
geneviewrs606231215
scholarrs606231215
googlers606231215
pharmgkbrs606231215
gwascentralrs606231215
openSNPrs606231215
23andMers606231215
SNPshotrs606231215
SNPdbers606231215
MSV3drs606231215
GWAS Ctlgrs606231215
StatusMerged into rs34224604
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs606231215(A;A)
Significance Pathogenic
Disease Delta-zero-thalassemia
Variation info
Gene HBD
CLNDBN Delta-zero-thalassemia, knossos type
Reversed 1
HGVS NC_000011.9:g.5255357delT
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016215.25,