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rs869312698

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312698(A;A)
Make rs869312698(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position88804785
GeneMEF2C
is asnp
is mentioned by
dbSNPrs869312698
ebirs869312698
HLIrs869312698
Exacrs869312698
Varsomers869312698
Maprs869312698
PheGenIrs869312698
hapmaprs869312698
1000 genomesrs869312698
hgdprs869312698
ensemblrs869312698
gopubmedrs869312698
geneviewrs869312698
scholarrs869312698
googlers869312698
pharmgkbrs869312698
gwascentralrs869312698
openSNPrs869312698
23andMers869312698
23andMe allrs869312698
SNP Nexus

SNPshotrs869312698
SNPdbers869312698
MSV3drs869312698
GWAS Ctlgrs869312698
Max Magnitude0
ClinVar
Risk rs869312698(A;A)
Alt rs869312698(A;A)
Reference rs869312698(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.88100602C>T
CLNSRC
CLNACC RCV000209864.1,