rs28934905

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(T;T)	0	common in clinvar

Make rs28934905(C;C)

Make rs28934905(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154031364

Gene

MECP2

is a	snp
is	mentioned by
dbSNP	rs28934905
dbSNP (classic)	rs28934905
ClinGen	rs28934905
ebi	rs28934905
HLI	rs28934905
Exac	rs28934905
Gnomad	rs28934905
Varsome	rs28934905
LitVar	rs28934905
Map	rs28934905
PheGenI	rs28934905
Biobank	rs28934905
1000 genomes	rs28934905
hgdp	rs28934905
ensembl	rs28934905
geneview	rs28934905
scholar	rs28934905
google	rs28934905
pharmgkb	rs28934905
gwascentral	rs28934905
openSNP	rs28934905
23andMe	rs28934905
SNPshot	rs28934905
SNPdbe	rs28934905
MSV3d	rs28934905
GWAS Ctlg	rs28934905

Max Magnitude

0

OMIM	300005
Desc	RETT SYNDROME
Variant	0002
Related	also

ClinVar
Risk	rs28934905(C;C) rs28934905(G;G)
Alt	rs28934905(C;C) rs28934905(G;G)
Reference	Rs28934905(T;T)
Significance	Pathogenic
Disease	not provided Rett syndrome
Variation	info
Gene	MECP2
CLNDBN	not provided Rett syndrome
Reversed	1
HGVS	NC_000023.10:g.153296815A>C; NC_000023.10:g.153296815A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000133119.1, RCV000170275.1, RCV000012579.21,