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rs1060503386

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8.8 Mental retardation, type 5; SYNGAP1-related
Make rs1060503386(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33440913
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1060503386
dbSNP (old)rs1060503386
ClinGenrs1060503386
ebirs1060503386
HLIrs1060503386
Exacrs1060503386
Gnomadrs1060503386
Varsomers1060503386
Maprs1060503386
PheGenIrs1060503386
Biobankrs1060503386
1000 genomesrs1060503386
hgdprs1060503386
ensemblrs1060503386
gopubmedrs1060503386
geneviewrs1060503386
scholarrs1060503386
googlers1060503386
pharmgkbrs1060503386
gwascentralrs1060503386
openSNPrs1060503386
23andMers1060503386
23andMe allrs1060503386
SNPshotrs1060503386
SNPdbers1060503386
MSV3drs1060503386
GWAS Ctlgrs1060503386
Max Magnitude8.8
ClinVar
Risk rs1060503386(T;T)
Alt rs1060503386(T;T)
Reference Rs1060503386(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33408690C>T
CLNSRC
CLNACC RCV000470395.1,