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rs387907197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907197(C;T)
Make rs387907197(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70033430
GeneEDA
is asnp
is mentioned by
dbSNPrs387907197
ebirs387907197
HLIrs387907197
Exacrs387907197
Varsomers387907197
Maprs387907197
PheGenIrs387907197
hapmaprs387907197
1000 genomesrs387907197
hgdprs387907197
ensemblrs387907197
gopubmedrs387907197
geneviewrs387907197
scholarrs387907197
googlers387907197
pharmgkbrs387907197
gwascentralrs387907197
openSNPrs387907197
23andMers387907197
23andMe allrs387907197
SNP Nexus

SNPshotrs387907197
SNPdbers387907197
MSV3drs387907197
GWAS Ctlgrs387907197
Max Magnitude0
ClinVar
Risk rs387907197(T;T)
Alt rs387907197(T;T)
Reference rs387907197(C;C)
Significance Pathogenic
Disease Hypohidrotic X-linked ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic X-linked ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69253280C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024599.2,