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rs397515575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACGGT;AACGGT) 0 common in clinvar
Make rs397515575(-;-)
Make rs397515575(-;AACGGT)
ReferenceGRCh38 38.1/141
Chromosome1
Position236482403
GeneEDARADD
is asnp
is mentioned by
dbSNPrs397515575
dbSNP (classic)rs397515575
ClinGenrs397515575
ebirs397515575
HLIrs397515575
Exacrs397515575
Gnomadrs397515575
Varsomers397515575
LitVarrs397515575
Maprs397515575
PheGenIrs397515575
Biobankrs397515575
1000 genomesrs397515575
hgdprs397515575
ensemblrs397515575
geneviewrs397515575
scholarrs397515575
googlers397515575
pharmgkbrs397515575
gwascentralrs397515575
openSNPrs397515575
23andMers397515575
SNPshotrs397515575
SNPdbers397515575
MSV3drs397515575
GWAS Ctlgrs397515575
Max Magnitude0
ClinVar
Risk rs397515575(-;-)
Alt rs397515575(-;-)
Reference Rs397515575(AACGGT;AACGGT)
Significance Pathogenic
Disease Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Variation info
Gene EDARADD
CLNDBN Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Reversed 0
HGVS NC_000001.10:g.236645703_236645708delAACGGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055986.1,