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rs727504417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504417(C;T)
Make rs727504417(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position70030493
GeneEDA
is asnp
is mentioned by
dbSNPrs727504417
dbSNP (classic)rs727504417
ClinGenrs727504417
ebirs727504417
HLIrs727504417
Exacrs727504417
Gnomadrs727504417
Varsomers727504417
LitVarrs727504417
Maprs727504417
PheGenIrs727504417
Biobankrs727504417
1000 genomesrs727504417
hgdprs727504417
ensemblrs727504417
geneviewrs727504417
scholarrs727504417
googlers727504417
pharmgkbrs727504417
gwascentralrs727504417
openSNPrs727504417
23andMers727504417
SNPshotrs727504417
SNPdbers727504417
MSV3drs727504417
GWAS Ctlgrs727504417
Max Magnitude0
ClinVar
Risk rs727504417(T;T)
Alt rs727504417(T;T)
Reference Rs727504417(C;C)
Significance Pathogenic
Disease Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69250343C>T
CLNSRC
CLNACC RCV000154608.1,