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rs132630317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630317(A;A)
Make rs132630317(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position70035478
GeneEDA
is asnp
is mentioned by
dbSNPrs132630317
ebirs132630317
HLIrs132630317
Exacrs132630317
Varsomers132630317
Maprs132630317
PheGenIrs132630317
hapmaprs132630317
1000 genomesrs132630317
hgdprs132630317
ensemblrs132630317
gopubmedrs132630317
geneviewrs132630317
scholarrs132630317
googlers132630317
pharmgkbrs132630317
gwascentralrs132630317
openSNPrs132630317
23andMers132630317
23andMe allrs132630317
SNP Nexus

SNPshotrs132630317
SNPdbers132630317
MSV3drs132630317
GWAS Ctlgrs132630317
Max Magnitude0
OMIM300451
Desc
Variant0010
Relatedalso
ClinVar
Risk rs132630317(A;A)
Alt rs132630317(A;A)
Reference rs132630317(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.69255328G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011787.10,