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rs132630314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630314(A;A)
Make rs132630314(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69957097
GeneEDA
is asnp
is mentioned by
dbSNPrs132630314
ebirs132630314
HLIrs132630314
Exacrs132630314
Varsomers132630314
Maprs132630314
PheGenIrs132630314
hapmaprs132630314
1000 genomesrs132630314
hgdprs132630314
ensemblrs132630314
gopubmedrs132630314
geneviewrs132630314
scholarrs132630314
googlers132630314
pharmgkbrs132630314
gwascentralrs132630314
openSNPrs132630314
23andMers132630314
23andMe allrs132630314
SNP Nexus

SNPshotrs132630314
SNPdbers132630314
MSV3drs132630314
GWAS Ctlgrs132630314
Max Magnitude0
OMIM300451
Desc
Variant0007
Relatedalso
ClinVar
Risk rs132630314(A,T;A,T)
Alt rs132630314(A,T;A,T)
Reference rs132630314(G;G)
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.69176947G>A; NC_000023.10:g.69176947G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032612.5, RCV000211756.1, RCV000037172.3,