rs397514656

Orientation

minus

Stabilized

minus

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

Make rs397514656(C;C)

Make rs397514656(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

88804776

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs397514656
dbSNP (classic)	rs397514656
ClinGen	rs397514656
ebi	rs397514656
HLI	rs397514656
Exac	rs397514656
Gnomad	rs397514656
Varsome	rs397514656
LitVar	rs397514656
Map	rs397514656
PheGenI	rs397514656
Biobank	rs397514656
1000 genomes	rs397514656
hgdp	rs397514656
ensembl	rs397514656
geneview	rs397514656
scholar	rs397514656
google	rs397514656
pharmgkb	rs397514656
gwascentral	rs397514656
openSNP	rs397514656
23andMe	rs397514656
SNPshot	rs397514656
SNPdbe	rs397514656
MSV3d	rs397514656
GWAS Ctlg	rs397514656

Max Magnitude

0

ClinVar
Risk	rs397514656(C;C)
Alt	rs397514656(C;C)
Reference	Rs397514656(G;G)
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.88100593C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033231.3,