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rs876661308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs876661308(A;T)
Make rs876661308(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position88823780
GeneMEF2C
is asnp
is mentioned by
dbSNPrs876661308
dbSNP (classic)rs876661308
ClinGenrs876661308
ebirs876661308
HLIrs876661308
Exacrs876661308
Gnomadrs876661308
Varsomers876661308
LitVarrs876661308
Maprs876661308
PheGenIrs876661308
Biobankrs876661308
1000 genomesrs876661308
hgdprs876661308
ensemblrs876661308
geneviewrs876661308
scholarrs876661308
googlers876661308
pharmgkbrs876661308
gwascentralrs876661308
openSNPrs876661308
23andMers876661308
SNPshotrs876661308
SNPdbers876661308
MSV3drs876661308
GWAS Ctlgrs876661308
Max Magnitude0
ClinVar
Risk rs876661308(T;T)
Alt rs876661308(T;T)
Reference Rs876661308(A;A)
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.88119597T>A
CLNSRC
CLNACC RCV000223956.1,