rs61748381

Orientation

minus

Stabilized

minus

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

Make rs61748381(C;T)

Make rs61748381(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

154031226

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61748381
dbSNP (classic)	rs61748381
ClinGen	rs61748381
ebi	rs61748381
HLI	rs61748381
Exac	rs61748381
Gnomad	rs61748381
Varsome	rs61748381
LitVar	rs61748381
Map	rs61748381
PheGenI	rs61748381
Biobank	rs61748381
1000 genomes	rs61748381
hgdp	rs61748381
ensembl	rs61748381
geneview	rs61748381
scholar	rs61748381
google	rs61748381
pharmgkb	rs61748381
gwascentral	rs61748381
openSNP	rs61748381
23andMe	rs61748381
SNPshot	rs61748381
SNPdbe	rs61748381
MSV3d	rs61748381
GWAS Ctlg	rs61748381

Max Magnitude

0

ClinVar
Risk	rs61748381(T;T)
Alt	rs61748381(T;T)
Reference	Rs61748381(C;C)
Significance	Pathogenic
Disease	not specified Rett syndrome not provided Angelman syndrome Mental retardation
Variation	info
Gene	MECP2
CLNDBN	not specified Rett syndrome not provided Angelman syndrome Mental retardation, X-linked, syndromic 13
Reversed	1
HGVS	NC_000023.10:g.153296677G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000153477.8, RCV000202489.1, RCV000224215.1, RCV000464516.1,