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rs397514656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514656(C;C)
Make rs397514656(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position88804776
GeneMEF2C
is asnp
is mentioned by
dbSNPrs397514656
ebirs397514656
HLIrs397514656
Exacrs397514656
Varsomers397514656
Maprs397514656
PheGenIrs397514656
hapmaprs397514656
1000 genomesrs397514656
hgdprs397514656
ensemblrs397514656
gopubmedrs397514656
geneviewrs397514656
scholarrs397514656
googlers397514656
pharmgkbrs397514656
gwascentralrs397514656
openSNPrs397514656
23andMers397514656
23andMe allrs397514656
SNP Nexus

SNPshotrs397514656
SNPdbers397514656
MSV3drs397514656
GWAS Ctlgrs397514656
Max Magnitude0
ClinVar
Risk rs397514656(C;C)
Alt rs397514656(C;C)
Reference rs397514656(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.88100593C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033231.3,