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rs786204985

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204985(A;G)
Make rs786204985(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18581945
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204985
ebirs786204985
HLIrs786204985
Exacrs786204985
Varsomers786204985
Maprs786204985
PheGenIrs786204985
hapmaprs786204985
1000 genomesrs786204985
hgdprs786204985
ensemblrs786204985
gopubmedrs786204985
geneviewrs786204985
scholarrs786204985
googlers786204985
pharmgkbrs786204985
gwascentralrs786204985
openSNPrs786204985
23andMers786204985
23andMe allrs786204985
SNP Nexus

SNPshotrs786204985
SNPdbers786204985
MSV3drs786204985
GWAS Ctlgrs786204985
Max Magnitude0
ClinVar
Risk rs786204985(G;G)
Alt rs786204985(G;G)
Reference rs786204985(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.18600065A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170043.1,