rs1057518718

Orientation

minus

Stabilized

minus

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

Make rs1057518718(A;A)

Make rs1057518718(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

154032252

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs1057518718
dbSNP (classic)	rs1057518718
ClinGen	rs1057518718
ebi	rs1057518718
HLI	rs1057518718
Exac	rs1057518718
Gnomad	rs1057518718
Varsome	rs1057518718
LitVar	rs1057518718
Map	rs1057518718
PheGenI	rs1057518718
Biobank	rs1057518718
1000 genomes	rs1057518718
hgdp	rs1057518718
ensembl	rs1057518718
geneview	rs1057518718
scholar	rs1057518718
google	rs1057518718
pharmgkb	rs1057518718
gwascentral	rs1057518718
openSNP	rs1057518718
23andMe	rs1057518718
SNPshot	rs1057518718
SNPdbe	rs1057518718
MSV3d	rs1057518718
GWAS Ctlg	rs1057518718

Max Magnitude

0

ClinVar
Risk	rs1057518718(A;A)
Alt	rs1057518718(A;A)
Reference	Rs1057518718(G;G)
Significance	Probable-Pathogenic
Disease	Rett syndrome
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome
Reversed	1
HGVS	NC_000023.10:g.153297703C>T
CLNSRC
CLNACC	RCV000415409.1,