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rs786204973

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204973(A;G)
Make rs786204973(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18506933
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204973
ebirs786204973
HLIrs786204973
Exacrs786204973
Varsomers786204973
Maprs786204973
PheGenIrs786204973
hapmaprs786204973
1000 genomesrs786204973
hgdprs786204973
ensemblrs786204973
gopubmedrs786204973
geneviewrs786204973
scholarrs786204973
googlers786204973
pharmgkbrs786204973
gwascentralrs786204973
openSNPrs786204973
23andMers786204973
23andMe allrs786204973
SNP Nexus

SNPshotrs786204973
SNPdbers786204973
MSV3drs786204973
GWAS Ctlgrs786204973
Max Magnitude0
ClinVar
Risk rs786204973(G;G)
Alt rs786204973(G;G)
Reference rs786204973(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.18525053A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170007.1,