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rs545185248

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs545185248(A;G)
Make rs545185248(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position88823787
GeneMEF2C
is asnp
is mentioned by
dbSNPrs545185248
ebirs545185248
HLIrs545185248
Exacrs545185248
Varsomers545185248
Maprs545185248
PheGenIrs545185248
hapmaprs545185248
1000 genomesrs545185248
hgdprs545185248
ensemblrs545185248
gopubmedrs545185248
geneviewrs545185248
scholarrs545185248
googlers545185248
pharmgkbrs545185248
gwascentralrs545185248
openSNPrs545185248
23andMers545185248
23andMe allrs545185248
SNP Nexus

SNPshotrs545185248
SNPdbers545185248
MSV3drs545185248
GWAS Ctlgrs545185248
Max Magnitude0
ClinVar
Risk rs545185248(G,T;G,T)
Alt rs545185248(G,T;G,T)
Reference rs545185248(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MEF2C
CLNDBN Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Reversed 0
HGVS NC_000005.9:g.88119604A>G
CLNSRC
CLNACC RCV000192846.1,