rs61749700

Orientation

plus

Stabilized

plus

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

Make rs61749700(A;T)

Make rs61749700(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18584324

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs61749700
dbSNP (classic)	rs61749700
ClinGen	rs61749700
ebi	rs61749700
HLI	rs61749700
Exac	rs61749700
Gnomad	rs61749700
Varsome	rs61749700
LitVar	rs61749700
Map	rs61749700
PheGenI	rs61749700
Biobank	rs61749700
1000 genomes	rs61749700
hgdp	rs61749700
ensembl	rs61749700
geneview	rs61749700
scholar	rs61749700
google	rs61749700
pharmgkb	rs61749700
gwascentral	rs61749700
openSNP	rs61749700
23andMe	rs61749700
SNPshot	rs61749700
SNPdbe	rs61749700
MSV3d	rs61749700
GWAS Ctlg	rs61749700

Max Magnitude

0

OMIM	300203
Desc
Variant	0004
Related	also

ClinVar
Risk	rs61749700(T;T)
Alt	rs61749700(T;T)
Reference	Rs61749700(A;A)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18602444A>T
CLNSRC	OMIM Allelic Variant RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000012252.23, RCV000133372.2,