rs587783747

Orientation

minus

Stabilized

minus

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

Make rs587783747(C;T)

Make rs587783747(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

88751881

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs587783747
dbSNP (classic)	rs587783747
ClinGen	rs587783747
ebi	rs587783747
HLI	rs587783747
Exac	rs587783747
Gnomad	rs587783747
Varsome	rs587783747
LitVar	rs587783747
Map	rs587783747
PheGenI	rs587783747
Biobank	rs587783747
1000 genomes	rs587783747
hgdp	rs587783747
ensembl	rs587783747
geneview	rs587783747
scholar	rs587783747
google	rs587783747
pharmgkb	rs587783747
gwascentral	rs587783747
openSNP	rs587783747
23andMe	rs587783747
SNPshot	rs587783747
SNPdbe	rs587783747
MSV3d	rs587783747
GWAS Ctlg	rs587783747

Max Magnitude

0

ClinVar
Risk	rs587783747(T;T)
Alt	rs587783747(T;T)
Reference	Rs587783747(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.88047698G>A
CLNSRC	Courtagen Life Sciences
CLNACC	RCV000146362.2,