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rs132630309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630309(G;T)
Make rs132630309(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69616514
GeneEDA
is asnp
is mentioned by
dbSNPrs132630309
dbSNP (classic)rs132630309
ClinGenrs132630309
ebirs132630309
HLIrs132630309
Exacrs132630309
Gnomadrs132630309
Varsomers132630309
LitVarrs132630309
Maprs132630309
PheGenIrs132630309
Biobankrs132630309
1000 genomesrs132630309
hgdprs132630309
ensemblrs132630309
geneviewrs132630309
scholarrs132630309
googlers132630309
pharmgkbrs132630309
gwascentralrs132630309
openSNPrs132630309
23andMers132630309
SNPshotrs132630309
SNPdbers132630309
MSV3drs132630309
GWAS Ctlgrs132630309
GMAF0.001209
Max Magnitude0
OMIM300451
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630309(T;T)
Alt rs132630309(T;T)
Reference Rs132630309(G;G)
Significance Other
Disease Hypohidrotic X-linked ectodermal dysplasia not specified not provided
Variation info
Gene EDA
CLNDBN Hypohidrotic X-linked ectodermal dysplasia not specified not provided
Reversed 0
HGVS NC_000023.10:g.68836358G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011779.3, RCV000218834.2, RCV000432524.1,