rs1057519543

Orientation

minus

Stabilized

minus

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

Make rs1057519543(G;T)

Make rs1057519543(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

154030913

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs1057519543
dbSNP (classic)	rs1057519543
ClinGen	rs1057519543
ebi	rs1057519543
HLI	rs1057519543
Exac	rs1057519543
Gnomad	rs1057519543
Varsome	rs1057519543
LitVar	rs1057519543
Map	rs1057519543
PheGenI	rs1057519543
Biobank	rs1057519543
1000 genomes	rs1057519543
hgdp	rs1057519543
ensembl	rs1057519543
geneview	rs1057519543
scholar	rs1057519543
google	rs1057519543
pharmgkb	rs1057519543
gwascentral	rs1057519543
openSNP	rs1057519543
23andMe	rs1057519543
SNPshot	rs1057519543
SNPdbe	rs1057519543
MSV3d	rs1057519543
GWAS Ctlg	rs1057519543

Max Magnitude

0

ClinVar
Risk	rs1057519543(T;T)
Alt	rs1057519543(T;T)
Reference	Rs1057519543(G;G)
Significance	Probable-Pathogenic
Disease	Focal epilepsy
Variation	info
Gene	MECP2
CLNDBN	Focal epilepsy
Reversed	1
HGVS	NC_000023.10:g.153296364C>A
CLNSRC
CLNACC	RCV000416950.1,