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rs797046029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTCCA;TCTCCA) 0 common in clinvar
Make rs797046029(C;C)
Make rs797046029(C;TCTCCA)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33441325
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs797046029
ClinGenrs797046029
ebirs797046029
HLIrs797046029
Exacrs797046029
Varsomers797046029
Maprs797046029
PheGenIrs797046029
hapmaprs797046029
1000 genomesrs797046029
hgdprs797046029
ensemblrs797046029
gopubmedrs797046029
geneviewrs797046029
scholarrs797046029
googlers797046029
pharmgkbrs797046029
gwascentralrs797046029
openSNPrs797046029
23andMers797046029
23andMe allrs797046029
SNP Nexus

SNPshotrs797046029
SNPdbers797046029
MSV3drs797046029
GWAS Ctlgrs797046029
Max Magnitude0
ClinVar
Risk rs797046029(C;C)
Alt rs797046029(C;C)
Reference Rs797046029(TCTCCA;TCTCCA)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33409102_33409107delTCTCCAinsC
CLNSRC
CLNACC RCV000194556.1,