Have questions? Visit https://www.reddit.com/r/SNPedia

rs132630313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630313(C;T)
Make rs132630313(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69957096
GeneEDA
is asnp
is mentioned by
dbSNPrs132630313
ebirs132630313
HLIrs132630313
Exacrs132630313
Varsomers132630313
Maprs132630313
PheGenIrs132630313
hapmaprs132630313
1000 genomesrs132630313
hgdprs132630313
ensemblrs132630313
gopubmedrs132630313
geneviewrs132630313
scholarrs132630313
googlers132630313
pharmgkbrs132630313
gwascentralrs132630313
openSNPrs132630313
23andMers132630313
23andMe allrs132630313
SNP Nexus

SNPshotrs132630313
SNPdbers132630313
MSV3drs132630313
GWAS Ctlgrs132630313
Max Magnitude0
OMIM300451
Desc
Variant0006
Relatedalso
ClinVar
Risk rs132630313(T;T)
Alt rs132630313(T;T)
Reference rs132630313(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.69176946C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011783.7,