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rs132630308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630308(C;C)
Make rs132630308(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position69616489
GeneEDA
is asnp
is mentioned by
dbSNPrs132630308
dbSNP (classic)rs132630308
ClinGenrs132630308
ebirs132630308
HLIrs132630308
Exacrs132630308
Gnomadrs132630308
Varsomers132630308
LitVarrs132630308
Maprs132630308
PheGenIrs132630308
Biobankrs132630308
1000 genomesrs132630308
hgdprs132630308
ensemblrs132630308
geneviewrs132630308
scholarrs132630308
googlers132630308
pharmgkbrs132630308
gwascentralrs132630308
openSNPrs132630308
23andMers132630308
SNPshotrs132630308
SNPdbers132630308
MSV3drs132630308
GWAS Ctlgrs132630308
Max Magnitude0
OMIM300451
Desc
Variant0001
Relatedalso
ClinVar
Risk rs132630308(C;C)
Alt rs132630308(C;C)
Reference Rs132630308(T;T)
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.68836333T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011778.10,