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rs387906406

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs387906406(-;-)
Make rs387906406(-;CT)
ReferenceGRCh38 38.1/141
Chromosome17
Position49991819
GeneDLX3
is asnp
is mentioned by
dbSNPrs387906406
dbSNP (classic)rs387906406
ClinGenrs387906406
ebirs387906406
HLIrs387906406
Exacrs387906406
Gnomadrs387906406
Varsomers387906406
LitVarrs387906406
Maprs387906406
PheGenIrs387906406
Biobankrs387906406
1000 genomesrs387906406
hgdprs387906406
ensemblrs387906406
geneviewrs387906406
scholarrs387906406
googlers387906406
pharmgkbrs387906406
gwascentralrs387906406
openSNPrs387906406
23andMers387906406
SNPshotrs387906406
SNPdbers387906406
MSV3drs387906406
GWAS Ctlgrs387906406
Max Magnitude0
ClinVar
Risk rs387906406(-;-)
Alt rs387906406(-;-)
Reference Rs387906406(CT;CT)
Significance Pathogenic
Disease Amelogenesis imperfecta Tricho-dento-osseous syndrome
Variation info
Gene DLX3
CLNDBN Amelogenesis imperfecta, type IV Tricho-dento-osseous syndrome
Reversed 1
HGVS NC_000017.10:g.48069183_48069184delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009640.2, RCV000009641.4,