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rs267608418

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608418(C;C)
Make rs267608418(C;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18507154
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608418
ebirs267608418
HLIrs267608418
Exacrs267608418
Varsomers267608418
Maprs267608418
PheGenIrs267608418
hapmaprs267608418
1000 genomesrs267608418
hgdprs267608418
ensemblrs267608418
gopubmedrs267608418
geneviewrs267608418
scholarrs267608418
googlers267608418
pharmgkbrs267608418
gwascentralrs267608418
openSNPrs267608418
23andMers267608418
23andMe allrs267608418
SNP Nexus

SNPshotrs267608418
SNPdbers267608418
MSV3drs267608418
GWAS Ctlgrs267608418
Max Magnitude0
ClinVar
Risk rs267608418(C;C)
Alt rs267608418(C;C)
Reference rs267608418(G;G)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18525274G>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133379.2,