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rs587783747

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783747(C;T)
Make rs587783747(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position88751881
GeneMEF2C
is asnp
is mentioned by
dbSNPrs587783747
ebirs587783747
HLIrs587783747
Exacrs587783747
Varsomers587783747
Maprs587783747
PheGenIrs587783747
hapmaprs587783747
1000 genomesrs587783747
hgdprs587783747
ensemblrs587783747
gopubmedrs587783747
geneviewrs587783747
scholarrs587783747
googlers587783747
pharmgkbrs587783747
gwascentralrs587783747
openSNPrs587783747
23andMers587783747
23andMe allrs587783747
SNP Nexus

SNPshotrs587783747
SNPdbers587783747
MSV3drs587783747
GWAS Ctlgrs587783747
Max Magnitude0
ClinVar
Risk rs587783747(T;T)
Alt rs587783747(T;T)
Reference rs587783747(C;C)
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.88047698G>A
CLNSRC Courtagen Life Sciences
CLNACC RCV000146362.2,