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rs397516675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516675(G;T)
Make rs397516675(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70033426
GeneEDA
is asnp
is mentioned by
dbSNPrs397516675
dbSNP (classic)rs397516675
ClinGenrs397516675
ebirs397516675
HLIrs397516675
Exacrs397516675
Gnomadrs397516675
Varsomers397516675
LitVarrs397516675
Maprs397516675
PheGenIrs397516675
Biobankrs397516675
1000 genomesrs397516675
hgdprs397516675
ensemblrs397516675
geneviewrs397516675
scholarrs397516675
googlers397516675
pharmgkbrs397516675
gwascentralrs397516675
openSNPrs397516675
23andMers397516675
SNPshotrs397516675
SNPdbers397516675
MSV3drs397516675
GWAS Ctlgrs397516675
Max Magnitude0
ClinVar
Risk rs397516675(A;A) rs397516675(T;T)
Alt rs397516675(A;A) rs397516675(T;T)
Reference Rs397516675(G;G)
Significance Pathogenic
Disease Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69253276G>A; NC_000023.10:g.69253276G>T
CLNSRC ClinVar
CLNACC RCV000150600.1, RCV000037187.2,