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rs1057519546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519546(A;A)
Make rs1057519546(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33432806
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057519546
dbSNP (old)rs1057519546
ClinGenrs1057519546
ebirs1057519546
HLIrs1057519546
Exacrs1057519546
Gnomadrs1057519546
Varsomers1057519546
Maprs1057519546
PheGenIrs1057519546
Biobankrs1057519546
1000 genomesrs1057519546
hgdprs1057519546
ensemblrs1057519546
gopubmedrs1057519546
geneviewrs1057519546
scholarrs1057519546
googlers1057519546
pharmgkbrs1057519546
gwascentralrs1057519546
openSNPrs1057519546
23andMers1057519546
23andMe allrs1057519546
SNPshotrs1057519546
SNPdbers1057519546
MSV3drs1057519546
GWAS Ctlgrs1057519546
Max Magnitude0
ClinVar
Risk rs1057519546(A;A)
Alt rs1057519546(A;A)
Reference Rs1057519546(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.33400583G>A
CLNSRC
CLNACC RCV000417030.1,