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rs132630325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630325(C;G)
Make rs132630325(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position100406586
GenePCDH19
is asnp
is mentioned by
dbSNPrs132630325
ebirs132630325
HLIrs132630325
Exacrs132630325
Varsomers132630325
Maprs132630325
PheGenIrs132630325
hapmaprs132630325
1000 genomesrs132630325
hgdprs132630325
ensemblrs132630325
gopubmedrs132630325
geneviewrs132630325
scholarrs132630325
googlers132630325
pharmgkbrs132630325
gwascentralrs132630325
openSNPrs132630325
23andMers132630325
23andMe allrs132630325
SNP Nexus

SNPshotrs132630325
SNPdbers132630325
MSV3drs132630325
GWAS Ctlgrs132630325
Max Magnitude0
OMIM300460
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630325(G;G)
Alt rs132630325(G;G)
Reference rs132630325(C;C)
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.99661584G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011765.6,