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rs397516679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516679(A;A)
Make rs397516679(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70033499
GeneEDA
is asnp
is mentioned by
dbSNPrs397516679
dbSNP (classic)rs397516679
ClinGenrs397516679
ebirs397516679
HLIrs397516679
Exacrs397516679
Gnomadrs397516679
Varsomers397516679
LitVarrs397516679
Maprs397516679
PheGenIrs397516679
Biobankrs397516679
1000 genomesrs397516679
hgdprs397516679
ensemblrs397516679
geneviewrs397516679
scholarrs397516679
googlers397516679
pharmgkbrs397516679
gwascentralrs397516679
openSNPrs397516679
23andMers397516679
SNPshotrs397516679
SNPdbers397516679
MSV3drs397516679
GWAS Ctlgrs397516679
Max Magnitude0
ClinVar
Risk rs397516679(A;A)
Alt rs397516679(A;A)
Reference Rs397516679(G;G)
Significance Probable-Pathogenic
Disease Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69253349G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000037191.2,