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rs61749704

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749704(C;T)
Make rs61749704(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18584338
GeneCDKL5
is asnp
is mentioned by
dbSNPrs61749704
ebirs61749704
HLIrs61749704
Exacrs61749704
Varsomers61749704
Maprs61749704
PheGenIrs61749704
hapmaprs61749704
1000 genomesrs61749704
hgdprs61749704
ensemblrs61749704
gopubmedrs61749704
geneviewrs61749704
scholarrs61749704
googlers61749704
pharmgkbrs61749704
gwascentralrs61749704
openSNPrs61749704
23andMers61749704
23andMe allrs61749704
SNP Nexus

SNPshotrs61749704
SNPdbers61749704
MSV3drs61749704
GWAS Ctlgrs61749704
Max Magnitude0
ClinVar
Risk rs61749704(T;T)
Alt rs61749704(T;T)
Reference rs61749704(C;C)
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.18602458C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133375.2,