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rs875989808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs875989808(C;T)
Make rs875989808(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position33444529
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs875989808
ClinGenrs875989808
ebirs875989808
HLIrs875989808
Exacrs875989808
Varsomers875989808
Maprs875989808
PheGenIrs875989808
hapmaprs875989808
1000 genomesrs875989808
hgdprs875989808
ensemblrs875989808
gopubmedrs875989808
geneviewrs875989808
scholarrs875989808
googlers875989808
pharmgkbrs875989808
gwascentralrs875989808
openSNPrs875989808
23andMers875989808
23andMe allrs875989808
SNP Nexus

SNPshotrs875989808
SNPdbers875989808
MSV3drs875989808
GWAS Ctlgrs875989808
Max Magnitude0
ClinVar
Risk rs875989808(T;T)
Alt rs875989808(T;T)
Reference Rs875989808(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33412306C>T
CLNSRC
CLNACC RCV000211105.1,