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rs267608657

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608657(A;A)
Make rs267608657(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18619971
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608657
ebirs267608657
HLIrs267608657
Exacrs267608657
Varsomers267608657
Maprs267608657
PheGenIrs267608657
hapmaprs267608657
1000 genomesrs267608657
hgdprs267608657
ensemblrs267608657
gopubmedrs267608657
geneviewrs267608657
scholarrs267608657
googlers267608657
pharmgkbrs267608657
gwascentralrs267608657
openSNPrs267608657
23andMers267608657
23andMe allrs267608657
SNP Nexus

SNPshotrs267608657
SNPdbers267608657
MSV3drs267608657
GWAS Ctlgrs267608657
Max Magnitude0
ClinVar
Risk rs267608657(A;A)
Alt rs267608657(A;A)
Reference rs267608657(G;G)
Significance Probable-Pathogenic
Disease not provided Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN not provided Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18638091G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144129.1, RCV000169983.1,