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rs758946412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs758946412(-;G)
Make rs758946412(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position100407506
GenePCDH19
is asnp
is mentioned by
dbSNPrs758946412
dbSNP (classic)rs758946412
ClinGenrs758946412
ebirs758946412
HLIrs758946412
Exacrs758946412
Gnomadrs758946412
Varsomers758946412
LitVarrs758946412
Maprs758946412
PheGenIrs758946412
Biobankrs758946412
1000 genomesrs758946412
hgdprs758946412
ensemblrs758946412
geneviewrs758946412
scholarrs758946412
googlers758946412
pharmgkbrs758946412
gwascentralrs758946412
openSNPrs758946412
23andMers758946412
SNPshotrs758946412
SNPdbers758946412
MSV3drs758946412
GWAS Ctlgrs758946412
Max Magnitude0
ClinVar
Risk rs758946412(G;G)
Alt rs758946412(G;G)
Reference Rs758946412(-;-)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 9 not provided
Variation info
Gene PCDH19
CLNDBN Early infantile epileptic encephalopathy 9 not provided
Reversed 0
HGVS NC_000023.10:g.99662505dupG
CLNSRC
CLNACC RCV000173240.1, RCV000188390.2,