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rs397516671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516671(C;T)
Make rs397516671(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70027937
GeneEDA
is asnp
is mentioned by
dbSNPrs397516671
dbSNP (classic)rs397516671
ClinGenrs397516671
ebirs397516671
HLIrs397516671
Exacrs397516671
Gnomadrs397516671
Varsomers397516671
LitVarrs397516671
Maprs397516671
PheGenIrs397516671
Biobankrs397516671
1000 genomesrs397516671
hgdprs397516671
ensemblrs397516671
geneviewrs397516671
scholarrs397516671
googlers397516671
pharmgkbrs397516671
gwascentralrs397516671
openSNPrs397516671
23andMers397516671
SNPshotrs397516671
SNPdbers397516671
MSV3drs397516671
GWAS Ctlgrs397516671
Max Magnitude0
ClinVar
Risk rs397516671(T;T)
Alt rs397516671(T;T)
Reference Rs397516671(C;C)
Significance Probable-Pathogenic
Disease Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69247787C>T
CLNSRC ClinVar
CLNACC RCV000037181.2,