rs267608646

Orientation

plus

Stabilized

plus

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

Make rs267608646(-;TA)

Make rs267608646(TA;TA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18604817

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608646
dbSNP (classic)	rs267608646
ClinGen	rs267608646
ebi	rs267608646
HLI	rs267608646
Exac	rs267608646
Gnomad	rs267608646
Varsome	rs267608646
LitVar	rs267608646
Map	rs267608646
PheGenI	rs267608646
Biobank	rs267608646
1000 genomes	rs267608646
hgdp	rs267608646
ensembl	rs267608646
geneview	rs267608646
scholar	rs267608646
google	rs267608646
pharmgkb	rs267608646
gwascentral	rs267608646
openSNP	rs267608646
23andMe	rs267608646
SNPshot	rs267608646
SNPdbe	rs267608646
MSV3d	rs267608646
GWAS Ctlg	rs267608646

Max Magnitude

0

ClinVar
Risk	rs267608646(AT;AT)
Alt	rs267608646(AT;AT)
Reference	Rs267608646(-;-)
Significance	Pathogenic
Disease	Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18622936_18622937dupTA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133334.2,