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rs879253762

From SNPedia

Orientationplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs879253762(-;-)
Make rs879253762(-;GT)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position33443130
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs879253762
ebirs879253762
HLIrs879253762
Exacrs879253762
Varsomers879253762
Maprs879253762
PheGenIrs879253762
hapmaprs879253762
1000 genomesrs879253762
hgdprs879253762
ensemblrs879253762
gopubmedrs879253762
geneviewrs879253762
scholarrs879253762
googlers879253762
pharmgkbrs879253762
gwascentralrs879253762
openSNPrs879253762
23andMers879253762
23andMe allrs879253762
SNP Nexus

SNPshotrs879253762
SNPdbers879253762
MSV3drs879253762
GWAS Ctlgrs879253762
Max Magnitude0
ClinVar
Risk rs879253762(;)
Alt rs879253762(;)
Reference rs879253762(GT;GT)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33410907_33410908delGT
CLNSRC University Hospital of Geneva
CLNACC RCV000234890.1,