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rs132630310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630310(C;T)
Make rs132630310(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69616375
GeneEDA
is asnp
is mentioned by
dbSNPrs132630310
ebirs132630310
HLIrs132630310
Exacrs132630310
Varsomers132630310
Maprs132630310
PheGenIrs132630310
hapmaprs132630310
1000 genomesrs132630310
hgdprs132630310
ensemblrs132630310
gopubmedrs132630310
geneviewrs132630310
scholarrs132630310
googlers132630310
pharmgkbrs132630310
gwascentralrs132630310
openSNPrs132630310
23andMers132630310
23andMe allrs132630310
SNP Nexus

SNPshotrs132630310
SNPdbers132630310
MSV3drs132630310
GWAS Ctlgrs132630310
Max Magnitude0
OMIM300451
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630310(T;T)
Alt rs132630310(T;T)
Reference rs132630310(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.68836219C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011780.7,