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rs1060503384

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503384(A;A)
Make rs1060503384(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33441612
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1060503384
dbSNP (old)rs1060503384
ClinGenrs1060503384
ebirs1060503384
HLIrs1060503384
Exacrs1060503384
Gnomadrs1060503384
Varsomers1060503384
Maprs1060503384
PheGenIrs1060503384
Biobankrs1060503384
1000 genomesrs1060503384
hgdprs1060503384
ensemblrs1060503384
gopubmedrs1060503384
geneviewrs1060503384
scholarrs1060503384
googlers1060503384
pharmgkbrs1060503384
gwascentralrs1060503384
openSNPrs1060503384
23andMers1060503384
23andMe allrs1060503384
SNPshotrs1060503384
SNPdbers1060503384
MSV3drs1060503384
GWAS Ctlgrs1060503384
Max Magnitude0
ClinVar
Risk rs1060503384(A;A)
Alt rs1060503384(A;A)
Reference Rs1060503384(G;G)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33409389G>A
CLNSRC
CLNACC RCV000459972.1,