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rs587780474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 8.8 Mental retardation, type 5; SYNGAP1-related
(G;G) 0 common in clinvar


Make rs587780474(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position33443154
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs587780474
dbSNP (classic)rs587780474
ClinGenrs587780474
ebirs587780474
HLIrs587780474
Exacrs587780474
Gnomadrs587780474
Varsomers587780474
LitVarrs587780474
Maprs587780474
PheGenIrs587780474
Biobankrs587780474
1000 genomesrs587780474
hgdprs587780474
ensemblrs587780474
geneviewrs587780474
scholarrs587780474
googlers587780474
pharmgkbrs587780474
gwascentralrs587780474
openSNPrs587780474
23andMers587780474
SNPshotrs587780474
SNPdbers587780474
MSV3drs587780474
GWAS Ctlgrs587780474
Max Magnitude8.8
ClinVar
Risk rs587780474(-;-)
Alt rs587780474(-;-)
Reference Rs587780474(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33410931delG
CLNSRC
CLNACC RCV000118568.1,