rs869312698

Orientation

minus

Stabilized

minus

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

Make rs869312698(A;A)

Make rs869312698(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

88804785

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs869312698
dbSNP (classic)	rs869312698
ClinGen	rs869312698
ebi	rs869312698
HLI	rs869312698
Exac	rs869312698
Gnomad	rs869312698
Varsome	rs869312698
LitVar	rs869312698
Map	rs869312698
PheGenI	rs869312698
Biobank	rs869312698
1000 genomes	rs869312698
hgdp	rs869312698
ensembl	rs869312698
geneview	rs869312698
scholar	rs869312698
google	rs869312698
pharmgkb	rs869312698
gwascentral	rs869312698
openSNP	rs869312698
23andMe	rs869312698
SNPshot	rs869312698
SNPdbe	rs869312698
MSV3d	rs869312698
GWAS Ctlg	rs869312698

Max Magnitude

0

ClinVar
Risk	rs869312698(A;A)
Alt	rs869312698(A;A)
Reference	Rs869312698(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.88100602C>T
CLNSRC
CLNACC	RCV000209864.1,