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rs132630321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630321(C;T)
Make rs132630321(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70035446
GeneEDA
is asnp
is mentioned by
dbSNPrs132630321
dbSNP (classic)rs132630321
ClinGenrs132630321
ebirs132630321
HLIrs132630321
Exacrs132630321
Gnomadrs132630321
Varsomers132630321
LitVarrs132630321
Maprs132630321
PheGenIrs132630321
Biobankrs132630321
1000 genomesrs132630321
hgdprs132630321
ensemblrs132630321
geneviewrs132630321
scholarrs132630321
googlers132630321
pharmgkbrs132630321
gwascentralrs132630321
openSNPrs132630321
23andMers132630321
SNPshotrs132630321
SNPdbers132630321
MSV3drs132630321
GWAS Ctlgrs132630321
Max Magnitude0
OMIM300451
Desc
Variant0018
Relatedalso
ClinVar
Risk rs132630321(T;T)
Alt rs132630321(T;T)
Reference Rs132630321(C;C)
Significance Pathogenic
Disease Tooth agenesis
Variation info
Gene EDA
CLNDBN Tooth agenesis, selective, X-linked, 1
Reversed 0
HGVS NC_000023.10:g.69255296C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011795.10,