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rs797045012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 8.8 Mental retardation, type 5; SYNGAP1-related
Make rs797045012(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33432683
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs797045012
dbSNP (classic)rs797045012
ClinGenrs797045012
ebirs797045012
HLIrs797045012
Exacrs797045012
Gnomadrs797045012
Varsomers797045012
LitVarrs797045012
Maprs797045012
PheGenIrs797045012
Biobankrs797045012
1000 genomesrs797045012
hgdprs797045012
ensemblrs797045012
geneviewrs797045012
scholarrs797045012
googlers797045012
pharmgkbrs797045012
gwascentralrs797045012
openSNPrs797045012
23andMers797045012
SNPshotrs797045012
SNPdbers797045012
MSV3drs797045012
GWAS Ctlgrs797045012
Max Magnitude8.8
ClinVar
Risk rs797045012(G;G)
Alt rs797045012(G;G)
Reference Rs797045012(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33400460A>G
CLNSRC
CLNACC RCV000190512.1,