rs267607233

Orientation

minus

Stabilized

minus

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

Make rs267607233(C;G)

Make rs267607233(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

88731856

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs267607233
dbSNP (classic)	rs267607233
ClinGen	rs267607233
ebi	rs267607233
HLI	rs267607233
Exac	rs267607233
Gnomad	rs267607233
Varsome	rs267607233
LitVar	rs267607233
Map	rs267607233
PheGenI	rs267607233
Biobank	rs267607233
1000 genomes	rs267607233
hgdp	rs267607233
ensembl	rs267607233
geneview	rs267607233
scholar	rs267607233
google	rs267607233
pharmgkb	rs267607233
gwascentral	rs267607233
openSNP	rs267607233
23andMe	rs267607233
SNPshot	rs267607233
SNPdbe	rs267607233
MSV3d	rs267607233
GWAS Ctlg	rs267607233

Max Magnitude

0

ClinVar
Risk	rs267607233(G;G)
Alt	rs267607233(G;G)
Reference	Rs267607233(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	MEF2C
CLNDBN	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Reversed	1
HGVS	NC_000005.9:g.88027673G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009503.2,