rs545185248

Orientation

plus

Stabilized

plus

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

Make rs545185248(A;G)

Make rs545185248(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

88823787

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs545185248
dbSNP (classic)	rs545185248
ClinGen	rs545185248
ebi	rs545185248
HLI	rs545185248
Exac	rs545185248
Gnomad	rs545185248
Varsome	rs545185248
LitVar	rs545185248
Map	rs545185248
PheGenI	rs545185248
Biobank	rs545185248
1000 genomes	rs545185248
hgdp	rs545185248
ensembl	rs545185248
geneview	rs545185248
scholar	rs545185248
google	rs545185248
pharmgkb	rs545185248
gwascentral	rs545185248
openSNP	rs545185248
23andMe	rs545185248
SNPshot	rs545185248
SNPdbe	rs545185248
MSV3d	rs545185248
GWAS Ctlg	rs545185248

Max Magnitude

0

ClinVar
Risk	rs545185248(G;G) rs545185248(T;T)
Alt	rs545185248(G;G) rs545185248(T;T)
Reference	Rs545185248(A;A)
Significance	Pathogenic
Disease	Mental retardation not provided
Variation	info
Gene	MEF2C
CLNDBN	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations not provided
Reversed	0
HGVS	NC_000005.9:g.88119604A>G
CLNSRC
CLNACC	RCV000192846.1, RCV000254756.1,