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rs132630320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630320(C;G)
Make rs132630320(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70035505
GeneEDA
is asnp
is mentioned by
dbSNPrs132630320
dbSNP (classic)rs132630320
ClinGenrs132630320
ebirs132630320
HLIrs132630320
Exacrs132630320
Gnomadrs132630320
Varsomers132630320
LitVarrs132630320
Maprs132630320
PheGenIrs132630320
Biobankrs132630320
1000 genomesrs132630320
hgdprs132630320
ensemblrs132630320
geneviewrs132630320
scholarrs132630320
googlers132630320
pharmgkbrs132630320
gwascentralrs132630320
openSNPrs132630320
23andMers132630320
SNPshotrs132630320
SNPdbers132630320
MSV3drs132630320
GWAS Ctlgrs132630320
Max Magnitude0
OMIM300451
Desc
Variant0015
Relatedalso
ClinVar
Risk rs132630320(G;G)
Alt rs132630320(G;G)
Reference Rs132630320(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.69255355C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011792.10,