rs63749749

Merged into

rs61752992

Orientation

minus

Stabilized

minus

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

Make rs63749749(-;-)

Make rs63749749(-;ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC)

Reference

GRCh38 38.1/142

Chromosome

X

Position

154030621

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs63749749
dbSNP (classic)	rs63749749
ClinGen	rs63749749
ebi	rs63749749
HLI	rs63749749
Exac	rs63749749
Gnomad	rs63749749
Varsome	rs63749749
LitVar	rs63749749
Map	rs63749749
PheGenI	rs63749749
Biobank	rs63749749
1000 genomes	rs63749749
hgdp	rs63749749
ensembl	rs63749749
geneview	rs63749749
scholar	rs63749749
google	rs63749749
pharmgkb	rs63749749
gwascentral	rs63749749
openSNP	rs63749749
23andMe	rs63749749
SNPshot	rs63749749
SNPdbe	rs63749749
MSV3d	rs63749749
GWAS Ctlg	rs63749749

Status

Merged into rs61752992

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs63749749(ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC;ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC)
Significance	Pathogenic
Disease	not provided not specified Autism Severe neonatal-onset encephalopathy with microcephaly Mental retardation Rett syndrome
Variation	info
Gene	MECP2
CLNDBN	not provided not specified Autism, susceptibility to, X-linked 3 Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13 Rett syndrome
Reversed	1
HGVS	NC_000023.10:g.153296072_153296115del44
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000132932.5, RCV000168704.1, RCV000169931.1, RCV000169932.1, RCV000170102.1, RCV000170103.4,