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rs863224907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs863224907(AT;AT)
Make rs863224907(AT;GC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position100408140
GenePCDH19
is asnp
is mentioned by
dbSNPrs863224907
ClinGenrs863224907
ebirs863224907
HLIrs863224907
Exacrs863224907
Varsomers863224907
Maprs863224907
PheGenIrs863224907
hapmaprs863224907
1000 genomesrs863224907
hgdprs863224907
ensemblrs863224907
gopubmedrs863224907
geneviewrs863224907
scholarrs863224907
googlers863224907
pharmgkbrs863224907
gwascentralrs863224907
openSNPrs863224907
23andMers863224907
23andMe allrs863224907
SNP Nexus

SNPshotrs863224907
SNPdbers863224907
MSV3drs863224907
GWAS Ctlgrs863224907
Max Magnitude0
ClinVar
Risk rs863224907(AT;AT)
Alt rs863224907(AT;AT)
Reference Rs863224907(GC;GC)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 9
Variation info
Gene PCDH19
CLNDBN Early infantile epileptic encephalopathy 9
Reversed 1
HGVS NC_000023.10:g.99663138_99663139delGCinsAT
CLNSRC
CLNACC RCV000197764.1,