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rs121918316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918316(C;T)
Make rs121918316(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33440787
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs121918316
ebirs121918316
HLIrs121918316
Exacrs121918316
Varsomers121918316
Maprs121918316
PheGenIrs121918316
hapmaprs121918316
1000 genomesrs121918316
hgdprs121918316
ensemblrs121918316
gopubmedrs121918316
geneviewrs121918316
scholarrs121918316
googlers121918316
pharmgkbrs121918316
gwascentralrs121918316
openSNPrs121918316
23andMers121918316
23andMe allrs121918316
SNP Nexus

SNPshotrs121918316
SNPdbers121918316
MSV3drs121918316
GWAS Ctlgrs121918316
Max Magnitude0
OMIM603384
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918316(T;T)
Alt rs121918316(T;T)
Reference rs121918316(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33408564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006765.2,