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rs132630318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630318(C;G)
Make rs132630318(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69616491
GeneEDA
is asnp
is mentioned by
dbSNPrs132630318
ebirs132630318
HLIrs132630318
Exacrs132630318
Varsomers132630318
Maprs132630318
PheGenIrs132630318
hapmaprs132630318
1000 genomesrs132630318
hgdprs132630318
ensemblrs132630318
gopubmedrs132630318
geneviewrs132630318
scholarrs132630318
googlers132630318
pharmgkbrs132630318
gwascentralrs132630318
openSNPrs132630318
23andMers132630318
23andMe allrs132630318
SNP Nexus

SNPshotrs132630318
SNPdbers132630318
MSV3drs132630318
GWAS Ctlgrs132630318
Max Magnitude0
OMIM300451
Desc
Variant0011
Relatedalso
ClinVar
Risk rs132630318(G;G)
Alt rs132630318(G;G)
Reference rs132630318(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.68836335C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011788.10,