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rs796052815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052815(A;A)
Make rs796052815(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position100407263
GenePCDH19
is asnp
is mentioned by
dbSNPrs796052815
dbSNP (classic)rs796052815
ClinGenrs796052815
ebirs796052815
HLIrs796052815
Exacrs796052815
Gnomadrs796052815
Varsomers796052815
LitVarrs796052815
Maprs796052815
PheGenIrs796052815
Biobankrs796052815
1000 genomesrs796052815
hgdprs796052815
ensemblrs796052815
geneviewrs796052815
scholarrs796052815
googlers796052815
pharmgkbrs796052815
gwascentralrs796052815
openSNPrs796052815
23andMers796052815
SNPshotrs796052815
SNPdbers796052815
MSV3drs796052815
GWAS Ctlgrs796052815
Max Magnitude0
ClinVar
Risk rs796052815(A;A) rs796052815(G;G)
Alt rs796052815(A;A) rs796052815(G;G)
Reference Rs796052815(C;C)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 9 not provided
Variation info
Gene PCDH19
CLNDBN Early infantile epileptic encephalopathy 9 not provided
Reversed 1
HGVS NC_000023.10:g.99662261G>C; NC_000023.10:g.99662261G>T
CLNSRC
CLNACC RCV000470577.1, RCV000188368.1,