Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783072

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783072(A;G)
Make rs587783072(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18575419
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783072
ebirs587783072
HLIrs587783072
Exacrs587783072
Varsomers587783072
Maprs587783072
PheGenIrs587783072
hapmaprs587783072
1000 genomesrs587783072
hgdprs587783072
ensemblrs587783072
gopubmedrs587783072
geneviewrs587783072
scholarrs587783072
googlers587783072
pharmgkbrs587783072
gwascentralrs587783072
openSNPrs587783072
23andMers587783072
23andMe allrs587783072
SNP Nexus

SNPshotrs587783072
SNPdbers587783072
MSV3drs587783072
GWAS Ctlgrs587783072
Max Magnitude0
ClinVar
Risk rs587783072(G;G)
Alt rs587783072(G;G)
Reference rs587783072(A;A)
Significance Pathogenic
Disease not provided Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN not provided Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18593539A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144734.1, RCV000169981.1,