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

rs1057520548

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057520548(A;A)
Make rs1057520548(A;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18647238
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs1057520548
dbSNP (old)rs1057520548
ClinGenrs1057520548
ebirs1057520548
HLIrs1057520548
Exacrs1057520548
Gnomadrs1057520548
Varsomers1057520548
Maprs1057520548
PheGenIrs1057520548
Biobankrs1057520548
1000 genomesrs1057520548
hgdprs1057520548
ensemblrs1057520548
gopubmedrs1057520548
geneviewrs1057520548
scholarrs1057520548
googlers1057520548
pharmgkbrs1057520548
gwascentralrs1057520548
openSNPrs1057520548
23andMers1057520548
23andMe allrs1057520548
SNPshotrs1057520548
SNPdbers1057520548
MSV3drs1057520548
GWAS Ctlgrs1057520548
Max Magnitude0
ClinVar
Risk rs1057520548(A;A)
Alt rs1057520548(A;A)
Reference Rs1057520548(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5 RS1
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.18665358A>T
CLNSRC
CLNACC RCV000426218.1,