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rs797045873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045873(C;T)
Make rs797045873(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position100408108
GenePCDH19
is asnp
is mentioned by
dbSNPrs797045873
dbSNP (classic)rs797045873
ClinGenrs797045873
ebirs797045873
HLIrs797045873
Exacrs797045873
Gnomadrs797045873
Varsomers797045873
LitVarrs797045873
Maprs797045873
PheGenIrs797045873
Biobankrs797045873
1000 genomesrs797045873
hgdprs797045873
ensemblrs797045873
geneviewrs797045873
scholarrs797045873
googlers797045873
pharmgkbrs797045873
gwascentralrs797045873
openSNPrs797045873
23andMers797045873
SNPshotrs797045873
SNPdbers797045873
MSV3drs797045873
GWAS Ctlgrs797045873
Max Magnitude0
ClinVar
Risk rs797045873(T;T)
Alt rs797045873(T;T)
Reference Rs797045873(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.99663106G>A
CLNSRC
CLNACC RCV000193596.1,