rs63749748

Orientation

minus

Stabilized

minus

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

Make rs63749748(-;-)

Make rs63749748(-;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACC)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154030628

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs63749748
dbSNP (classic)	rs63749748
ClinGen	rs63749748
ebi	rs63749748
HLI	rs63749748
Exac	rs63749748
Gnomad	rs63749748
Varsome	rs63749748
LitVar	rs63749748
Map	rs63749748
PheGenI	rs63749748
Biobank	rs63749748
1000 genomes	rs63749748
hgdp	rs63749748
ensembl	rs63749748
geneview	rs63749748
scholar	rs63749748
google	rs63749748
pharmgkb	rs63749748
gwascentral	rs63749748
openSNP	rs63749748
23andMe	rs63749748
SNPshot	rs63749748
SNPdbe	rs63749748
MSV3d	rs63749748
GWAS Ctlg	rs63749748

Max Magnitude

0

ClinVar
Risk	rs63749748(-;-)
Alt	rs63749748(-;-)
Reference	Rs63749748(TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACC;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACC)
Significance	Pathogenic
Disease	Angelman syndrome Rett syndrome Mental retardation
Variation	info
Gene	MECP2
CLNDBN	Angelman syndrome Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed	1
HGVS	NC_000023.10:g.153296079_153296122del44
CLNSRC	Quest Diagnostics
CLNACC	RCV000132897.2, RCV000170100.4, RCV000473761.1,