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rs587783749

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783749(-;-)
Make rs587783749(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position88730212
GeneMEF2C
is asnp
is mentioned by
dbSNPrs587783749
ebirs587783749
HLIrs587783749
Exacrs587783749
Varsomers587783749
Maprs587783749
PheGenIrs587783749
hapmaprs587783749
1000 genomesrs587783749
hgdprs587783749
ensemblrs587783749
gopubmedrs587783749
geneviewrs587783749
scholarrs587783749
googlers587783749
pharmgkbrs587783749
gwascentralrs587783749
openSNPrs587783749
23andMers587783749
23andMe allrs587783749
SNP Nexus

SNPshotrs587783749
SNPdbers587783749
MSV3drs587783749
GWAS Ctlgrs587783749
Max Magnitude0
ClinVar
Risk rs587783749(;)
Alt rs587783749(;)
Reference rs587783749(T;T)
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.88026029delA
CLNSRC
CLNACC RCV000146367.1,