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rs132630326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630326(G;T)
Make rs132630326(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position100408456
GenePCDH19
is asnp
is mentioned by
dbSNPrs132630326
ebirs132630326
HLIrs132630326
Exacrs132630326
Varsomers132630326
Maprs132630326
PheGenIrs132630326
hapmaprs132630326
1000 genomesrs132630326
hgdprs132630326
ensemblrs132630326
gopubmedrs132630326
geneviewrs132630326
scholarrs132630326
googlers132630326
pharmgkbrs132630326
gwascentralrs132630326
openSNPrs132630326
23andMers132630326
23andMe allrs132630326
SNP Nexus

SNPshotrs132630326
SNPdbers132630326
MSV3drs132630326
GWAS Ctlgrs132630326
Max Magnitude0
OMIM300460
Desc
Variant0006
Relatedalso
ClinVar
Risk rs132630326(T;T)
Alt rs132630326(T;T)
Reference rs132630326(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 9
Variation info
Gene PCDH19
CLNDBN Early infantile epileptic encephalopathy 9
Reversed 1
HGVS NC_000023.10:g.99663454C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011767.5,