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rs797046028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046028(-;-)
Make rs797046028(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33438819
GeneMIR5004, SYNGAP1
is asnp
is mentioned by
dbSNPrs797046028
ClinGenrs797046028
ebirs797046028
HLIrs797046028
Exacrs797046028
Varsomers797046028
Maprs797046028
PheGenIrs797046028
hapmaprs797046028
1000 genomesrs797046028
hgdprs797046028
ensemblrs797046028
gopubmedrs797046028
geneviewrs797046028
scholarrs797046028
googlers797046028
pharmgkbrs797046028
gwascentralrs797046028
openSNPrs797046028
23andMers797046028
23andMe allrs797046028
SNP Nexus

SNPshotrs797046028
SNPdbers797046028
MSV3drs797046028
GWAS Ctlgrs797046028
Max Magnitude0
ClinVar
Risk rs797046028(-;-)
Alt rs797046028(-;-)
Reference Rs797046028(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MIR5004 SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5
Reversed 0
HGVS NC_000006.11:g.33406596delG
CLNSRC
CLNACC RCV000193516.1,