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rs1057519400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TT) 8.8 Mental retardation, type 5; SYNGAP1-related
(TT;TT) 0 common in clinvar


Make rs1057519400(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33440960
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057519400
dbSNP (old)rs1057519400
ClinGenrs1057519400
ebirs1057519400
HLIrs1057519400
Exacrs1057519400
Gnomadrs1057519400
Varsomers1057519400
Maprs1057519400
PheGenIrs1057519400
Biobankrs1057519400
1000 genomesrs1057519400
hgdprs1057519400
ensemblrs1057519400
gopubmedrs1057519400
geneviewrs1057519400
scholarrs1057519400
googlers1057519400
pharmgkbrs1057519400
gwascentralrs1057519400
openSNPrs1057519400
23andMers1057519400
23andMe allrs1057519400
SNPshotrs1057519400
SNPdbers1057519400
MSV3drs1057519400
GWAS Ctlgrs1057519400
Max Magnitude8.8
ClinVar
Risk rs1057519400(-;-)
Alt rs1057519400(-;-)
Reference Rs1057519400(TT;TT)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33408737_33408738delTT
CLNSRC
CLNACC RCV000417100.1,