rs193922676

Orientation

minus

Stabilized

minus

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

Make rs193922676(C;T)

Make rs193922676(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154030677

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs193922676
dbSNP (classic)	rs193922676
ClinGen	rs193922676
ebi	rs193922676
HLI	rs193922676
Exac	rs193922676
Gnomad	rs193922676
Varsome	rs193922676
LitVar	rs193922676
Map	rs193922676
PheGenI	rs193922676
Biobank	rs193922676
1000 genomes	rs193922676
hgdp	rs193922676
ensembl	rs193922676
geneview	rs193922676
scholar	rs193922676
google	rs193922676
pharmgkb	rs193922676
gwascentral	rs193922676
openSNP	rs193922676
23andMe	rs193922676
SNPshot	rs193922676
SNPdbe	rs193922676
MSV3d	rs193922676
GWAS Ctlg	rs193922676

Max Magnitude

0

ClinVar
Risk	rs193922676(T;T)
Alt	rs193922676(T;T)
Reference	Rs193922676(C;C)
Significance	Probable-Pathogenic
Disease	Rett syndrome Mental retardation
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed	1
HGVS	NC_000023.10:g.153296128G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030162.1, RCV000170251.1,