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rs267608650

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608650(A;A)
Make rs267608650(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18609464
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608650
ebirs267608650
HLIrs267608650
Exacrs267608650
Varsomers267608650
Maprs267608650
PheGenIrs267608650
hapmaprs267608650
1000 genomesrs267608650
hgdprs267608650
ensemblrs267608650
gopubmedrs267608650
geneviewrs267608650
scholarrs267608650
googlers267608650
pharmgkbrs267608650
gwascentralrs267608650
openSNPrs267608650
23andMers267608650
23andMe allrs267608650
SNP Nexus

SNPshotrs267608650
SNPdbers267608650
MSV3drs267608650
GWAS Ctlgrs267608650
Max Magnitude0
ClinVar
Risk rs267608650(A;A)
Alt rs267608650(A;A)
Reference rs267608650(G;G)
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.18627584G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144124.1, RCV000170016.1,