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rs587784299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784299(A;T)
Make rs587784299(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position100407903
GenePCDH19
is asnp
is mentioned by
dbSNPrs587784299
dbSNP (classic)rs587784299
ClinGenrs587784299
ebirs587784299
HLIrs587784299
Exacrs587784299
Gnomadrs587784299
Varsomers587784299
LitVarrs587784299
Maprs587784299
PheGenIrs587784299
Biobankrs587784299
1000 genomesrs587784299
hgdprs587784299
ensemblrs587784299
geneviewrs587784299
scholarrs587784299
googlers587784299
pharmgkbrs587784299
gwascentralrs587784299
openSNPrs587784299
23andMers587784299
SNPshotrs587784299
SNPdbers587784299
MSV3drs587784299
GWAS Ctlgrs587784299
Max Magnitude0
ClinVar
Risk rs587784299(G;G) rs587784299(T;T)
Alt rs587784299(G;G) rs587784299(T;T)
Reference Rs587784299(A;A)
Significance 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.99662901T>A; NC_000023.10:g.99662901T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000147084.1, RCV000188357.2,