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rs1057518796

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518796(-;-)
Make rs1057518796(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33443752
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057518796
dbSNP (old)rs1057518796
ClinGenrs1057518796
ebirs1057518796
HLIrs1057518796
Exacrs1057518796
Gnomadrs1057518796
Varsomers1057518796
Maprs1057518796
PheGenIrs1057518796
Biobankrs1057518796
1000 genomesrs1057518796
hgdprs1057518796
ensemblrs1057518796
gopubmedrs1057518796
geneviewrs1057518796
scholarrs1057518796
googlers1057518796
pharmgkbrs1057518796
gwascentralrs1057518796
openSNPrs1057518796
23andMers1057518796
23andMe allrs1057518796
SNPshotrs1057518796
SNPdbers1057518796
MSV3drs1057518796
GWAS Ctlgrs1057518796
Max Magnitude0
ClinVar
Risk rs1057518796(-;-)
Alt rs1057518796(-;-)
Reference Rs1057518796(C;C)
Significance Probable-Pathogenic
Disease Absent speech Ataxia Global developmental delay
Variation info
Gene SYNGAP1
CLNDBN Absent speech Ataxia Global developmental delay
Reversed 0
HGVS NC_000006.11:g.33411529delC
CLNSRC
CLNACC RCV000414895.1,