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rs1057518786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518786(A;A)
Make rs1057518786(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33441374
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057518786
dbSNP (old)rs1057518786
ClinGenrs1057518786
ebirs1057518786
HLIrs1057518786
Exacrs1057518786
Gnomadrs1057518786
Varsomers1057518786
Maprs1057518786
PheGenIrs1057518786
Biobankrs1057518786
1000 genomesrs1057518786
hgdprs1057518786
ensemblrs1057518786
gopubmedrs1057518786
geneviewrs1057518786
scholarrs1057518786
googlers1057518786
pharmgkbrs1057518786
gwascentralrs1057518786
openSNPrs1057518786
23andMers1057518786
23andMe allrs1057518786
SNPshotrs1057518786
SNPdbers1057518786
MSV3drs1057518786
GWAS Ctlgrs1057518786
Max Magnitude0
ClinVar
Risk rs1057518786(A;A)
Alt rs1057518786(A;A)
Reference Rs1057518786(G;G)
Significance Probable-Pathogenic
Disease Delayed speech and language development Generalized hypotonia Global developmental delay Preauricular skin tag Stereotypy
Variation info
Gene SYNGAP1
CLNDBN Delayed speech and language development Generalized hypotonia Global developmental delay Preauricular skin tag Stereotypy
Reversed 0
HGVS NC_000006.11:g.33409151G>A
CLNSRC
CLNACC RCV000415313.1,