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rs1057519405

From SNPedia

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


Make rs1057519405(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33440737
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057519405
dbSNP (old)rs1057519405
ClinGenrs1057519405
ebirs1057519405
HLIrs1057519405
Exacrs1057519405
Gnomadrs1057519405
Varsomers1057519405
LitVarrs1057519405
Maprs1057519405
PheGenIrs1057519405
Biobankrs1057519405
1000 genomesrs1057519405
hgdprs1057519405
ensemblrs1057519405
gopubmedrs1057519405
geneviewrs1057519405
scholarrs1057519405
googlers1057519405
pharmgkbrs1057519405
gwascentralrs1057519405
openSNPrs1057519405
23andMers1057519405
23andMe allrs1057519405
SNPshotrs1057519405
SNPdbers1057519405
MSV3drs1057519405
GWAS Ctlgrs1057519405
Max Magnitude8.8
ClinVar
Risk rs1057519405(-;-)
Alt rs1057519405(-;-)
Reference Rs1057519405(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33408514delC
CLNSRC
CLNACC RCV000417098.1,