rs730882192

Orientation

minus

Stabilized

minus

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

Make rs730882192(-;-)

Make rs730882192(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

88751988

Gene

MEF2C

is a	snp
is	mentioned by
dbSNP	rs730882192
dbSNP (classic)	rs730882192
ClinGen	rs730882192
ebi	rs730882192
HLI	rs730882192
Exac	rs730882192
Gnomad	rs730882192
Varsome	rs730882192
LitVar	rs730882192
Map	rs730882192
PheGenI	rs730882192
Biobank	rs730882192
1000 genomes	rs730882192
hgdp	rs730882192
ensembl	rs730882192
geneview	rs730882192
scholar	rs730882192
google	rs730882192
pharmgkb	rs730882192
gwascentral	rs730882192
openSNP	rs730882192
23andMe	rs730882192
SNPshot	rs730882192
SNPdbe	rs730882192
MSV3d	rs730882192
GWAS Ctlg	rs730882192

Max Magnitude

0

ClinVar
Risk	rs730882192(-;-)
Alt	rs730882192(-;-)
Reference	Rs730882192(A;A)
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.88047805delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033232.5,