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rs132630324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630324(C;T)
Make rs132630324(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position100408345
GenePCDH19
is asnp
is mentioned by
dbSNPrs132630324
ebirs132630324
HLIrs132630324
Exacrs132630324
Varsomers132630324
Maprs132630324
PheGenIrs132630324
hapmaprs132630324
1000 genomesrs132630324
hgdprs132630324
ensemblrs132630324
gopubmedrs132630324
geneviewrs132630324
scholarrs132630324
googlers132630324
pharmgkbrs132630324
gwascentralrs132630324
openSNPrs132630324
23andMers132630324
23andMe allrs132630324
SNP Nexus

SNPshotrs132630324
SNPdbers132630324
MSV3drs132630324
GWAS Ctlgrs132630324
Max Magnitude0
OMIM300460
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630324(T;T)
Alt rs132630324(T;T)
Reference rs132630324(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.99663343G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011764.9,