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rs757402424

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757402424(A;A)
Make rs757402424(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18584272
GeneCDKL5
is asnp
is mentioned by
dbSNPrs757402424
ebirs757402424
HLIrs757402424
Exacrs757402424
Varsomers757402424
Maprs757402424
PheGenIrs757402424
hapmaprs757402424
1000 genomesrs757402424
hgdprs757402424
ensemblrs757402424
gopubmedrs757402424
geneviewrs757402424
scholarrs757402424
googlers757402424
pharmgkbrs757402424
gwascentralrs757402424
openSNPrs757402424
23andMers757402424
23andMe allrs757402424
SNP Nexus

SNPshotrs757402424
SNPdbers757402424
MSV3drs757402424
GWAS Ctlgrs757402424
Max Magnitude0
ClinVar
Risk rs757402424(A,C;A,C)
Alt rs757402424(A,C;A,C)
Reference rs757402424(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.18602392G>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169985.1,