rs786204988

Orientation

plus

Stabilized

plus

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

Make rs786204988(-;GT)

Make rs786204988(GT;GT)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18584310

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204988
dbSNP (classic)	rs786204988
ClinGen	rs786204988
ebi	rs786204988
HLI	rs786204988
Exac	rs786204988
Gnomad	rs786204988
Varsome	rs786204988
LitVar	rs786204988
Map	rs786204988
PheGenI	rs786204988
Biobank	rs786204988
1000 genomes	rs786204988
hgdp	rs786204988
ensembl	rs786204988
geneview	rs786204988
scholar	rs786204988
google	rs786204988
pharmgkb	rs786204988
gwascentral	rs786204988
openSNP	rs786204988
23andMe	rs786204988
SNPshot	rs786204988
SNPdbe	rs786204988
MSV3d	rs786204988
GWAS Ctlg	rs786204988

Max Magnitude

0

ClinVar
Risk	rs786204988(GT;GT)
Alt	rs786204988(GT;GT)
Reference	Rs786204988(-;-)
Significance	Pathogenic
Disease	Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18602429_18602430dupGT
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170048.1,