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rs730882192

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882192(-;-)
Make rs730882192(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position88751988
GeneMEF2C
is asnp
is mentioned by
dbSNPrs730882192
ebirs730882192
HLIrs730882192
Exacrs730882192
Varsomers730882192
Maprs730882192
PheGenIrs730882192
hapmaprs730882192
1000 genomesrs730882192
hgdprs730882192
ensemblrs730882192
gopubmedrs730882192
geneviewrs730882192
scholarrs730882192
googlers730882192
pharmgkbrs730882192
gwascentralrs730882192
openSNPrs730882192
23andMers730882192
23andMe allrs730882192
SNP Nexus

SNPshotrs730882192
SNPdbers730882192
MSV3drs730882192
GWAS Ctlgrs730882192
Max Magnitude0
ClinVar
Risk rs730882192(;)
Alt rs730882192(;)
Reference rs730882192(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.88047805delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000033232.5,