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rs267608546

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608546(-;-)
Make rs267608546(-;GA)
Make rs267608546(GA;GA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18598539
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608546
ebirs267608546
HLIrs267608546
Exacrs267608546
Varsomers267608546
Maprs267608546
PheGenIrs267608546
hapmaprs267608546
1000 genomesrs267608546
hgdprs267608546
ensemblrs267608546
gopubmedrs267608546
geneviewrs267608546
scholarrs267608546
googlers267608546
pharmgkbrs267608546
gwascentralrs267608546
openSNPrs267608546
23andMers267608546
23andMe allrs267608546
SNP Nexus

SNPshotrs267608546
SNPdbers267608546
MSV3drs267608546
GWAS Ctlgrs267608546
Max Magnitude0
ClinVar
Risk rs267608546(AG;AG)
Alt rs267608546(AG;AG)
Reference rs267608546(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene CDKL5
CLNDBN Angelman syndrome
Reversed 0
HGVS NC_000023.10:g.18616658_18616659dupGA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133391.2,