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rs797045053

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045053(A;G)
Make rs797045053(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position88804788
GeneMEF2C
is asnp
is mentioned by
dbSNPrs797045053
ebirs797045053
HLIrs797045053
Exacrs797045053
Varsomers797045053
Maprs797045053
PheGenIrs797045053
hapmaprs797045053
1000 genomesrs797045053
hgdprs797045053
ensemblrs797045053
gopubmedrs797045053
geneviewrs797045053
scholarrs797045053
googlers797045053
pharmgkbrs797045053
gwascentralrs797045053
openSNPrs797045053
23andMers797045053
23andMe allrs797045053
SNP Nexus

SNPshotrs797045053
SNPdbers797045053
MSV3drs797045053
GWAS Ctlgrs797045053
Max Magnitude0
ClinVar
Risk rs797045053(G;G)
Alt rs797045053(G;G)
Reference rs797045053(A;A)
Significance Probable-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.88100605T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191104.1,