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rs132630315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630315(C;T)
Make rs132630315(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70027956
GeneEDA
is asnp
is mentioned by
dbSNPrs132630315
dbSNP (classic)rs132630315
ClinGenrs132630315
ebirs132630315
HLIrs132630315
Exacrs132630315
Gnomadrs132630315
Varsomers132630315
LitVarrs132630315
Maprs132630315
PheGenIrs132630315
Biobankrs132630315
1000 genomesrs132630315
hgdprs132630315
ensemblrs132630315
geneviewrs132630315
scholarrs132630315
googlers132630315
pharmgkbrs132630315
gwascentralrs132630315
openSNPrs132630315
23andMers132630315
SNPshotrs132630315
SNPdbers132630315
MSV3drs132630315
GWAS Ctlgrs132630315
Max Magnitude0
OMIM300451
Desc
Variant0008
Relatedalso
ClinVar
Risk rs132630315(T;T)
Alt rs132630315(T;T)
Reference Rs132630315(C;C)
Significance Pathogenic
Disease Hypohidrotic X-linked ectodermal dysplasia not specified
Variation info
Gene EDA
CLNDBN Hypohidrotic X-linked ectodermal dysplasia not specified
Reversed 0
HGVS NC_000023.10:g.69247806C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011785.7, RCV000154610.1,