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rs863224930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224930(-;-)
Make rs863224930(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33437801
GeneMIR5004, SYNGAP1
is asnp
is mentioned by
dbSNPrs863224930
dbSNP (old)rs863224930
ClinGenrs863224930
ebirs863224930
HLIrs863224930
Exacrs863224930
Gnomadrs863224930
Varsomers863224930
Maprs863224930
PheGenIrs863224930
Biobankrs863224930
1000 genomesrs863224930
hgdprs863224930
ensemblrs863224930
gopubmedrs863224930
geneviewrs863224930
scholarrs863224930
googlers863224930
pharmgkbrs863224930
gwascentralrs863224930
openSNPrs863224930
23andMers863224930
23andMe allrs863224930
SNP Nexus

SNPshotrs863224930
SNPdbers863224930
MSV3drs863224930
GWAS Ctlgrs863224930
Max Magnitude0
ClinVar
Risk rs863224930(-;-)
Alt rs863224930(-;-)
Reference Rs863224930(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.33405578delG
CLNSRC
CLNACC RCV000198471.1,