rs61749751

Orientation

minus

Stabilized

minus

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

Make rs61749751(-;ACGCC)

Make rs61749751(ACGCC;ACGCC)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154031076

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs61749751
dbSNP (classic)	rs61749751
ClinGen	rs61749751
ebi	rs61749751
HLI	rs61749751
Exac	rs61749751
Gnomad	rs61749751
Varsome	rs61749751
LitVar	rs61749751
Map	rs61749751
PheGenI	rs61749751
Biobank	rs61749751
1000 genomes	rs61749751
hgdp	rs61749751
ensembl	rs61749751
geneview	rs61749751
scholar	rs61749751
google	rs61749751
pharmgkb	rs61749751
gwascentral	rs61749751
openSNP	rs61749751
23andMe	rs61749751
SNPshot	rs61749751
SNPdbe	rs61749751
MSV3d	rs61749751
GWAS Ctlg	rs61749751

Max Magnitude

0

ClinVar
Risk	rs61749751(ACGCC;ACGCC) Rs61749751(C;C)
Alt	rs61749751(ACGCC;ACGCC) Rs61749751(C;C)
Reference	Rs61749751(-;-)
Significance	Pathogenic
Disease	Rett syndrome not provided Severe neonatal-onset encephalopathy with microcephaly
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome not provided Severe neonatal-onset encephalopathy with microcephaly
Reversed	1
HGVS	NC_000023.10:g.153296526dupG; NC_000023.10:g.153296528_153296532dupGGCGT
CLNSRC
CLNACC	RCV000133229.2, RCV000144424.1, RCV000170112.1, RCV000133217.2,