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rs61749700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61749700(A;T)
Make rs61749700(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18584324
GeneCDKL5
is asnp
is mentioned by
dbSNPrs61749700
ebirs61749700
HLIrs61749700
Exacrs61749700
Varsomers61749700
Maprs61749700
PheGenIrs61749700
hapmaprs61749700
1000 genomesrs61749700
hgdprs61749700
ensemblrs61749700
gopubmedrs61749700
geneviewrs61749700
scholarrs61749700
googlers61749700
pharmgkbrs61749700
gwascentralrs61749700
openSNPrs61749700
23andMers61749700
23andMe allrs61749700
SNP Nexus

SNPshotrs61749700
SNPdbers61749700
MSV3drs61749700
GWAS Ctlgrs61749700
Max Magnitude0
OMIM300203
Desc
Variant0004
Relatedalso


ClinVar
Risk rs61749700(T;T)
Alt rs61749700(T;T)
Reference rs61749700(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18602444A>T
CLNSRC OMIM Allelic Variant RettBASE (CDKL5)
CLNACC RCV000012252.23, RCV000133372.2,