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rs797046030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797046030(-;-)
Make rs797046030(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33446584
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs797046030
dbSNP (old)rs797046030
ClinGenrs797046030
ebirs797046030
HLIrs797046030
Exacrs797046030
Gnomadrs797046030
Varsomers797046030
Maprs797046030
PheGenIrs797046030
Biobankrs797046030
1000 genomesrs797046030
hgdprs797046030
ensemblrs797046030
gopubmedrs797046030
geneviewrs797046030
scholarrs797046030
googlers797046030
pharmgkbrs797046030
gwascentralrs797046030
openSNPrs797046030
23andMers797046030
23andMe allrs797046030
SNP Nexus

SNPshotrs797046030
SNPdbers797046030
MSV3drs797046030
GWAS Ctlgrs797046030
Max Magnitude0
ClinVar
Risk rs797046030(-;-)
Alt rs797046030(-;-)
Reference Rs797046030(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33414361delT
CLNSRC
CLNACC RCV000194044.1,