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rs121918315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918315(A;T)
Make rs121918315(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33432709
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs121918315
ebirs121918315
HLIrs121918315
Exacrs121918315
Varsomers121918315
Maprs121918315
PheGenIrs121918315
hapmaprs121918315
1000 genomesrs121918315
hgdprs121918315
ensemblrs121918315
gopubmedrs121918315
geneviewrs121918315
scholarrs121918315
googlers121918315
pharmgkbrs121918315
gwascentralrs121918315
openSNPrs121918315
23andMers121918315
23andMe allrs121918315
SNP Nexus

SNPshotrs121918315
SNPdbers121918315
MSV3drs121918315
GWAS Ctlgrs121918315
Max Magnitude0
OMIM603384
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918315(T;T)
Alt rs121918315(T;T)
Reference rs121918315(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33400486A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006764.2,