rs797045053

Orientation

minus

Stabilized

minus

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

Make rs797045053(A;G)

Make rs797045053(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

88804788

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs797045053
dbSNP (classic)	rs797045053
ClinGen	rs797045053
ebi	rs797045053
HLI	rs797045053
Exac	rs797045053
Gnomad	rs797045053
Varsome	rs797045053
LitVar	rs797045053
Map	rs797045053
PheGenI	rs797045053
Biobank	rs797045053
1000 genomes	rs797045053
hgdp	rs797045053
ensembl	rs797045053
geneview	rs797045053
scholar	rs797045053
google	rs797045053
pharmgkb	rs797045053
gwascentral	rs797045053
openSNP	rs797045053
23andMe	rs797045053
SNPshot	rs797045053
SNPdbe	rs797045053
MSV3d	rs797045053
GWAS Ctlg	rs797045053

Max Magnitude

0

ClinVar
Risk	rs797045053(G;G)
Alt	rs797045053(G;G)
Reference	Rs797045053(A;A)
Significance	Probable-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.88100605T>C
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191104.1,