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rs132630311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630311(A;A)
Make rs132630311(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69616495
GeneEDA
is asnp
is mentioned by
dbSNPrs132630311
ebirs132630311
HLIrs132630311
Exacrs132630311
Varsomers132630311
Maprs132630311
PheGenIrs132630311
hapmaprs132630311
1000 genomesrs132630311
hgdprs132630311
ensemblrs132630311
gopubmedrs132630311
geneviewrs132630311
scholarrs132630311
googlers132630311
pharmgkbrs132630311
gwascentralrs132630311
openSNPrs132630311
23andMers132630311
23andMe allrs132630311
SNP Nexus

SNPshotrs132630311
SNPdbers132630311
MSV3drs132630311
GWAS Ctlgrs132630311
Max Magnitude0
OMIM300451
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630311(A;A)
Alt rs132630311(A;A)
Reference rs132630311(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.68836339G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011781.10,