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rs786204991

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204991(A;G)
Make rs786204991(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18510846
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204991
ebirs786204991
HLIrs786204991
Exacrs786204991
Varsomers786204991
Maprs786204991
PheGenIrs786204991
hapmaprs786204991
1000 genomesrs786204991
hgdprs786204991
ensemblrs786204991
gopubmedrs786204991
geneviewrs786204991
scholarrs786204991
googlers786204991
pharmgkbrs786204991
gwascentralrs786204991
openSNPrs786204991
23andMers786204991
23andMe allrs786204991
SNP Nexus

SNPshotrs786204991
SNPdbers786204991
MSV3drs786204991
GWAS Ctlgrs786204991
Max Magnitude0
ClinVar
Risk rs786204991(G;G)
Alt rs786204991(G;G)
Reference rs786204991(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18528966A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170055.1,