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rs132630316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630316(C;C)
Make rs132630316(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70028001
GeneEDA
is asnp
is mentioned by
dbSNPrs132630316
ebirs132630316
HLIrs132630316
Exacrs132630316
Varsomers132630316
Maprs132630316
PheGenIrs132630316
hapmaprs132630316
1000 genomesrs132630316
hgdprs132630316
ensemblrs132630316
gopubmedrs132630316
geneviewrs132630316
scholarrs132630316
googlers132630316
pharmgkbrs132630316
gwascentralrs132630316
openSNPrs132630316
23andMers132630316
23andMe allrs132630316
SNP Nexus

SNPshotrs132630316
SNPdbers132630316
MSV3drs132630316
GWAS Ctlgrs132630316
Max Magnitude0
OMIM300451
Desc
Variant0009
Relatedalso
ClinVar
Risk rs132630316(C;C)
Alt rs132630316(C;C)
Reference rs132630316(G;G)
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.69247851G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011786.3,