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rs786204970

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204970(-;-)
Make rs786204970(-;A)
Make rs786204970(A;A)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604341
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204970
ebirs786204970
HLIrs786204970
Exacrs786204970
Varsomers786204970
Maprs786204970
PheGenIrs786204970
hapmaprs786204970
1000 genomesrs786204970
hgdprs786204970
ensemblrs786204970
gopubmedrs786204970
geneviewrs786204970
scholarrs786204970
googlers786204970
pharmgkbrs786204970
gwascentralrs786204970
openSNPrs786204970
23andMers786204970
23andMe allrs786204970
SNP Nexus

SNPshotrs786204970
SNPdbers786204970
MSV3drs786204970
GWAS Ctlgrs786204970
Max Magnitude0
ClinVar
Risk rs786204970(A;A)
Alt rs786204970(A;A)
Reference rs786204970(;)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622461dupA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169997.1,