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rs587784300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784300(G;T)
Make rs587784300(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position100407808
GenePCDH19
is asnp
is mentioned by
dbSNPrs587784300
dbSNP (classic)rs587784300
ClinGenrs587784300
ebirs587784300
HLIrs587784300
Exacrs587784300
Gnomadrs587784300
Varsomers587784300
LitVarrs587784300
Maprs587784300
PheGenIrs587784300
Biobankrs587784300
1000 genomesrs587784300
hgdprs587784300
ensemblrs587784300
geneviewrs587784300
scholarrs587784300
googlers587784300
pharmgkbrs587784300
gwascentralrs587784300
openSNPrs587784300
23andMers587784300
SNPshotrs587784300
SNPdbers587784300
MSV3drs587784300
GWAS Ctlgrs587784300
Max Magnitude0
ClinVar
Risk rs587784300(T;T)
Alt rs587784300(T;T)
Reference Rs587784300(G;G)
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.99662806C>A
CLNSRC
CLNACC RCV000147085.1, RCV000490161.1,