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rs587780470

From SNPedia

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


Make rs587780470(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position33440834
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs587780470
dbSNP (classic)rs587780470
ClinGenrs587780470
ebirs587780470
HLIrs587780470
Exacrs587780470
Gnomadrs587780470
Varsomers587780470
LitVarrs587780470
Maprs587780470
PheGenIrs587780470
Biobankrs587780470
1000 genomesrs587780470
hgdprs587780470
ensemblrs587780470
geneviewrs587780470
scholarrs587780470
googlers587780470
pharmgkbrs587780470
gwascentralrs587780470
openSNPrs587780470
23andMers587780470
SNPshotrs587780470
SNPdbers587780470
MSV3drs587780470
GWAS Ctlgrs587780470
Merged fromRs587780473
Max Magnitude8.8
ClinVar
Risk rs587780470(-;-)
Alt rs587780470(-;-)
Reference Rs587780470(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33408612delC
CLNSRC
CLNACC RCV000118565.3,