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rs869312955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8.8 Mental retardation, type 5; SYNGAP1-related
Make rs869312955(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position33446710
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs869312955
dbSNP (classic)rs869312955
ClinGenrs869312955
ebirs869312955
HLIrs869312955
Exacrs869312955
Gnomadrs869312955
Varsomers869312955
LitVarrs869312955
Maprs869312955
PheGenIrs869312955
Biobankrs869312955
1000 genomesrs869312955
hgdprs869312955
ensemblrs869312955
geneviewrs869312955
scholarrs869312955
googlers869312955
pharmgkbrs869312955
gwascentralrs869312955
openSNPrs869312955
23andMers869312955
SNPshotrs869312955
SNPdbers869312955
MSV3drs869312955
GWAS Ctlgrs869312955
Max Magnitude8.8
ClinVar
Risk rs869312955(T;T)
Alt rs869312955(T;T)
Reference Rs869312955(C;C)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene SYNGAP1
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000006.11:g.33414487C>T
CLNSRC
CLNACC RCV000210697.1,