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rs397514670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514670(C;T)
Make rs397514670(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33440737
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs397514670
ebirs397514670
HLIrs397514670
Exacrs397514670
Varsomers397514670
Maprs397514670
PheGenIrs397514670
hapmaprs397514670
1000 genomesrs397514670
hgdprs397514670
ensemblrs397514670
gopubmedrs397514670
geneviewrs397514670
scholarrs397514670
googlers397514670
pharmgkbrs397514670
gwascentralrs397514670
openSNPrs397514670
23andMers397514670
23andMe allrs397514670
SNP Nexus

SNPshotrs397514670
SNPdbers397514670
MSV3drs397514670
GWAS Ctlgrs397514670
Max Magnitude0
ClinVar
Risk rs397514670(T;T)
Alt rs397514670(T;T)
Reference rs397514670(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33408514C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034348.3,