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rs397514655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514655(A;A)
Make rs397514655(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position88804743
GeneMEF2C
is asnp
is mentioned by
dbSNPrs397514655
ebirs397514655
HLIrs397514655
Exacrs397514655
Varsomers397514655
Maprs397514655
PheGenIrs397514655
hapmaprs397514655
1000 genomesrs397514655
hgdprs397514655
ensemblrs397514655
gopubmedrs397514655
geneviewrs397514655
scholarrs397514655
googlers397514655
pharmgkbrs397514655
gwascentralrs397514655
openSNPrs397514655
23andMers397514655
23andMe allrs397514655
SNP Nexus

SNPshotrs397514655
SNPdbers397514655
MSV3drs397514655
GWAS Ctlgrs397514655
Max Magnitude0
ClinVar
Risk rs397514655(A;A)
Alt rs397514655(A;A)
Reference rs397514655(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.88100560A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033229.3,