rs61752992

Orientation

minus

Stabilized

minus

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

Make rs61752992(-;-)

Make rs61752992(-;GCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154030627

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61752992
dbSNP (classic)	rs61752992
ClinGen	rs61752992
ebi	rs61752992
HLI	rs61752992
Exac	rs61752992
Gnomad	rs61752992
Varsome	rs61752992
LitVar	rs61752992
Map	rs61752992
PheGenI	rs61752992
Biobank	rs61752992
1000 genomes	rs61752992
hgdp	rs61752992
ensembl	rs61752992
geneview	rs61752992
scholar	rs61752992
google	rs61752992
pharmgkb	rs61752992
gwascentral	rs61752992
openSNP	rs61752992
23andMe	rs61752992
SNPshot	rs61752992
SNPdbe	rs61752992
MSV3d	rs61752992
GWAS Ctlg	rs61752992

Merged from

Rs63749749

Max Magnitude

0

ClinVar
Risk	Rs61752992(ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC;ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC) rs61752992(-;-)
Alt	Rs61752992(ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC;ACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCC) rs61752992(-;-)
Reference	Rs61752992(GCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA;GCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCA)
Significance	Pathogenic
Disease	not provided not specified Autism Severe neonatal-onset encephalopathy with microcephaly Mental retardation Rett syndrome Delayed gross motor development Delayed speech and language development Loss of ability to walk Angelman syndrome Smith-Magenis Syndrome-like
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 Delayed gross motor development Delayed speech and language development Loss of ability to walk Angelman syndrome Smith-Magenis Syndrome-like
Reversed	1
HGVS	NC_000023.10:g.153296072_153296115del44
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000132932.6, RCV000168704.2, RCV000169931.1, RCV000169932.1, RCV000170102.1, RCV000170103.4, RCV000415090.1, RCV000461051.1, RCV000491803.1,