rs1057520548

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057520548(A;A)

Make rs1057520548(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18647238

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs1057520548
dbSNP (classic)	rs1057520548
ClinGen	rs1057520548
ebi	rs1057520548
HLI	rs1057520548
Exac	rs1057520548
Gnomad	rs1057520548
Varsome	rs1057520548
LitVar	rs1057520548
Map	rs1057520548
PheGenI	rs1057520548
Biobank	rs1057520548
1000 genomes	rs1057520548
hgdp	rs1057520548
ensembl	rs1057520548
geneview	rs1057520548
scholar	rs1057520548
google	rs1057520548
pharmgkb	rs1057520548
gwascentral	rs1057520548
openSNP	rs1057520548
23andMe	rs1057520548
SNPshot	rs1057520548
SNPdbe	rs1057520548
MSV3d	rs1057520548
GWAS Ctlg	rs1057520548

Max Magnitude

0

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,