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rs786204979

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204979(A;G)
Make rs786204979(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18619865
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204979
ebirs786204979
HLIrs786204979
Exacrs786204979
Varsomers786204979
Maprs786204979
PheGenIrs786204979
hapmaprs786204979
1000 genomesrs786204979
hgdprs786204979
ensemblrs786204979
gopubmedrs786204979
geneviewrs786204979
scholarrs786204979
googlers786204979
pharmgkbrs786204979
gwascentralrs786204979
openSNPrs786204979
23andMers786204979
23andMe allrs786204979
SNP Nexus

SNPshotrs786204979
SNPdbers786204979
MSV3drs786204979
GWAS Ctlgrs786204979
Max Magnitude0
ClinVar
Risk rs786204979(G;G)
Alt rs786204979(G;G)
Reference rs786204979(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.18637985A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170019.1,