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rs1057518183

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


Make rs1057518183(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33438425
GeneMIR5004, SYNGAP1
is asnp
is mentioned by
dbSNPrs1057518183
dbSNP (old)rs1057518183
ClinGenrs1057518183
ebirs1057518183
HLIrs1057518183
Exacrs1057518183
Gnomadrs1057518183
Varsomers1057518183
Maprs1057518183
PheGenIrs1057518183
Biobankrs1057518183
1000 genomesrs1057518183
hgdprs1057518183
ensemblrs1057518183
gopubmedrs1057518183
geneviewrs1057518183
scholarrs1057518183
googlers1057518183
pharmgkbrs1057518183
gwascentralrs1057518183
openSNPrs1057518183
23andMers1057518183
23andMe allrs1057518183
SNPshotrs1057518183
SNPdbers1057518183
MSV3drs1057518183
GWAS Ctlgrs1057518183
Max Magnitude8.8
ClinVar
Risk rs1057518183(-;-)
Alt rs1057518183(-;-)
Reference Rs1057518183(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene MIR5004 SYNGAP1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.33406202delC
CLNSRC
CLNACC RCV000413721.1,