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rs132630323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630323(A;A)
Make rs132630323(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position100407276
GenePCDH19
is asnp
is mentioned by
dbSNPrs132630323
ebirs132630323
HLIrs132630323
Exacrs132630323
Varsomers132630323
Maprs132630323
PheGenIrs132630323
hapmaprs132630323
1000 genomesrs132630323
hgdprs132630323
ensemblrs132630323
gopubmedrs132630323
geneviewrs132630323
scholarrs132630323
googlers132630323
pharmgkbrs132630323
gwascentralrs132630323
openSNPrs132630323
23andMers132630323
23andMe allrs132630323
SNP Nexus

SNPshotrs132630323
SNPdbers132630323
MSV3drs132630323
GWAS Ctlgrs132630323
Max Magnitude0
OMIM300460
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630323(A;A)
Alt rs132630323(A;A)
Reference rs132630323(T;T)
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.99662274A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011763.5,