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rs786204971

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204971(-;-)
Make rs786204971(-;T)
Make rs786204971(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604356
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204971
ebirs786204971
HLIrs786204971
Exacrs786204971
Varsomers786204971
Maprs786204971
PheGenIrs786204971
hapmaprs786204971
1000 genomesrs786204971
hgdprs786204971
ensemblrs786204971
gopubmedrs786204971
geneviewrs786204971
scholarrs786204971
googlers786204971
pharmgkbrs786204971
gwascentralrs786204971
openSNPrs786204971
23andMers786204971
23andMe allrs786204971
SNP Nexus

SNPshotrs786204971
SNPdbers786204971
MSV3drs786204971
GWAS Ctlgrs786204971
Max Magnitude0
ClinVar
Risk rs786204971(T;T)
Alt rs786204971(T;T)
Reference rs786204971(;)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18622476_18622477insT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169998.1,