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rs397514741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514741(C;T)
Make rs397514741(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33432724
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs397514741
ebirs397514741
HLIrs397514741
Exacrs397514741
Varsomers397514741
Maprs397514741
PheGenIrs397514741
hapmaprs397514741
1000 genomesrs397514741
hgdprs397514741
ensemblrs397514741
gopubmedrs397514741
geneviewrs397514741
scholarrs397514741
googlers397514741
pharmgkbrs397514741
gwascentralrs397514741
openSNPrs397514741
23andMers397514741
23andMe allrs397514741
SNP Nexus

SNPshotrs397514741
SNPdbers397514741
MSV3drs397514741
GWAS Ctlgrs397514741
Max Magnitude0
ClinVar
Risk rs397514741(T;T)
Alt rs397514741(T;T)
Reference rs397514741(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33400501C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054513.2,