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rs267607233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607233(C;G)
Make rs267607233(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position88731856
GeneMEF2C
is asnp
is mentioned by
dbSNPrs267607233
ebirs267607233
HLIrs267607233
Exacrs267607233
Varsomers267607233
Maprs267607233
PheGenIrs267607233
hapmaprs267607233
1000 genomesrs267607233
hgdprs267607233
ensemblrs267607233
gopubmedrs267607233
geneviewrs267607233
scholarrs267607233
googlers267607233
pharmgkbrs267607233
gwascentralrs267607233
openSNPrs267607233
23andMers267607233
23andMe allrs267607233
SNP Nexus

SNPshotrs267607233
SNPdbers267607233
MSV3drs267607233
GWAS Ctlgrs267607233
Max Magnitude0
ClinVar
Risk rs267607233(G;G)
Alt rs267607233(G;G)
Reference rs267607233(C;C)
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.88027673G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009503.2,