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rs786204988

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204988(-;-)
Make rs786204988(-;GT)
Make rs786204988(GT;GT)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18584310
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204988
ebirs786204988
HLIrs786204988
Exacrs786204988
Varsomers786204988
Maprs786204988
PheGenIrs786204988
hapmaprs786204988
1000 genomesrs786204988
hgdprs786204988
ensemblrs786204988
gopubmedrs786204988
geneviewrs786204988
scholarrs786204988
googlers786204988
pharmgkbrs786204988
gwascentralrs786204988
openSNPrs786204988
23andMers786204988
23andMe allrs786204988
SNP Nexus

SNPshotrs786204988
SNPdbers786204988
MSV3drs786204988
GWAS Ctlgrs786204988
Max Magnitude0
ClinVar
Risk rs786204988(GT;GT)
Alt rs786204988(GT;GT)
Reference rs786204988(;)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18602429_18602430dupGT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170048.1,