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rs132630312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630312(C;T)
Make rs132630312(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69957093
GeneEDA
is asnp
is mentioned by
dbSNPrs132630312
ebirs132630312
HLIrs132630312
Exacrs132630312
Varsomers132630312
Maprs132630312
PheGenIrs132630312
hapmaprs132630312
1000 genomesrs132630312
hgdprs132630312
ensemblrs132630312
gopubmedrs132630312
geneviewrs132630312
scholarrs132630312
googlers132630312
pharmgkbrs132630312
gwascentralrs132630312
openSNPrs132630312
23andMers132630312
23andMe allrs132630312
SNP Nexus

SNPshotrs132630312
SNPdbers132630312
MSV3drs132630312
GWAS Ctlgrs132630312
Max Magnitude0
OMIM300451
Desc
Variant0005
Relatedalso
ClinVar
Risk rs132630312(T;T)
Alt rs132630312(T;T)
Reference rs132630312(C;C)
Significance Pathogenic
Disease Hypohidrotic X-linked ectodermal dysplasia Hypohidrotic ectodermal dysplasia
Variation info
Gene EDA
CLNDBN Hypohidrotic X-linked ectodermal dysplasia Hypohidrotic ectodermal dysplasia
Reversed 0
HGVS NC_000023.10:g.69176943C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011782.8, RCV000211755.1,