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rs1060503378

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 8.8 Mental retardation, type 5; SYNGAP1-related
(AG;AG) 0 common in clinvar


Make rs1060503378(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33438072
GeneMIR5004, SYNGAP1
is asnp
is mentioned by
dbSNPrs1060503378
dbSNP (old)rs1060503378
ClinGenrs1060503378
ebirs1060503378
HLIrs1060503378
Exacrs1060503378
Gnomadrs1060503378
Varsomers1060503378
Maprs1060503378
PheGenIrs1060503378
Biobankrs1060503378
1000 genomesrs1060503378
hgdprs1060503378
ensemblrs1060503378
gopubmedrs1060503378
geneviewrs1060503378
scholarrs1060503378
googlers1060503378
pharmgkbrs1060503378
gwascentralrs1060503378
openSNPrs1060503378
23andMers1060503378
23andMe allrs1060503378
SNPshotrs1060503378
SNPdbers1060503378
MSV3drs1060503378
GWAS Ctlgrs1060503378
Max Magnitude8.8
ClinVar
Risk rs1060503378(-;-)
Alt rs1060503378(-;-)
Reference Rs1060503378(AG;AG)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene MIR5004 SYNGAP1
CLNDBN Mental retardation, autosomal dominant 5 not provided
Reversed 0
HGVS NC_000006.11:g.33405849_33405850delAG
CLNSRC
CLNACC RCV000457705.1, RCV000482994.1,