rs386134271

Orientation

minus

Stabilized

minus

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

Make rs386134271(CCA;CCA)

Make rs386134271(CCA;GCCCCCACCTCCACCTGAGCCCGAGAGCT)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154030642

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs386134271
dbSNP (classic)	rs386134271
ClinGen	rs386134271
ebi	rs386134271
HLI	rs386134271
Exac	rs386134271
Gnomad	rs386134271
Varsome	rs386134271
LitVar	rs386134271
Map	rs386134271
PheGenI	rs386134271
Biobank	rs386134271
1000 genomes	rs386134271
hgdp	rs386134271
ensembl	rs386134271
geneview	rs386134271
scholar	rs386134271
google	rs386134271
pharmgkb	rs386134271
gwascentral	rs386134271
openSNP	rs386134271
23andMe	rs386134271
SNPshot	rs386134271
SNPdbe	rs386134271
MSV3d	rs386134271
GWAS Ctlg	rs386134271

Max Magnitude

0

ClinVar
Risk	rs386134271(CCA;CCA)
Alt	rs386134271(CCA;CCA)
Reference	Rs386134271(GCCCCCACCTCCACCTGAGCCCGAGAGCT;GCCCCCACCTCCACCTGAGCCCGAGAGCT)
Significance	Pathogenic
Disease	Rett syndrome
Variation	info
Gene	MECP2
CLNDBN	Rett syndrome
Reversed	1
HGVS	NC_000023.10:g.153296093_153296121del29insTGG
CLNSRC
CLNACC	RCV000132900.2,