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rs1057518352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8.8 Mental retardation, type 5; SYNGAP1-related
Make rs1057518352(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33432787
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057518352
dbSNP (old)rs1057518352
ClinGenrs1057518352
ebirs1057518352
HLIrs1057518352
Exacrs1057518352
Gnomadrs1057518352
Varsomers1057518352
LitVarrs1057518352
Maprs1057518352
PheGenIrs1057518352
Biobankrs1057518352
1000 genomesrs1057518352
hgdprs1057518352
ensemblrs1057518352
gopubmedrs1057518352
geneviewrs1057518352
scholarrs1057518352
googlers1057518352
pharmgkbrs1057518352
gwascentralrs1057518352
openSNPrs1057518352
23andMers1057518352
23andMe allrs1057518352
SNPshotrs1057518352
SNPdbers1057518352
MSV3drs1057518352
GWAS Ctlgrs1057518352
Max Magnitude8.8
ClinVar
Risk rs1057518352(T;T)
Alt rs1057518352(T;T)
Reference Rs1057518352(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene SYNGAP1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.33400564C>T
CLNSRC
CLNACC RCV000412753.1,