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rs1060503383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 8.8 Mental retardation, type 5; SYNGAP1-related
Make rs1060503383(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33441318
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1060503383
dbSNP (classic)rs1060503383
ClinGenrs1060503383
ebirs1060503383
HLIrs1060503383
Exacrs1060503383
Gnomadrs1060503383
Varsomers1060503383
LitVarrs1060503383
Maprs1060503383
PheGenIrs1060503383
Biobankrs1060503383
1000 genomesrs1060503383
hgdprs1060503383
ensemblrs1060503383
geneviewrs1060503383
scholarrs1060503383
googlers1060503383
pharmgkbrs1060503383
gwascentralrs1060503383
openSNPrs1060503383
23andMers1060503383
23andMe allrs1060503383
SNPshotrs1060503383
SNPdbers1060503383
MSV3drs1060503383
GWAS Ctlgrs1060503383
Max Magnitude8.8
ClinVar
Risk rs1060503383(T;T)
Alt rs1060503383(T;T)
Reference Rs1060503383(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33409095C>T
CLNSRC
CLNACC RCV000477576.1,