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rs1057519545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519545(C;C)
Make rs1057519545(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position33435225
GeneSYNGAP1
is asnp
is mentioned by
dbSNPrs1057519545
dbSNP (classic)rs1057519545
ClinGenrs1057519545
ebirs1057519545
HLIrs1057519545
Exacrs1057519545
Gnomadrs1057519545
Varsomers1057519545
LitVarrs1057519545
Maprs1057519545
PheGenIrs1057519545
Biobankrs1057519545
1000 genomesrs1057519545
hgdprs1057519545
ensemblrs1057519545
geneviewrs1057519545
scholarrs1057519545
googlers1057519545
pharmgkbrs1057519545
gwascentralrs1057519545
openSNPrs1057519545
23andMers1057519545
23andMe allrs1057519545
SNPshotrs1057519545
SNPdbers1057519545
MSV3drs1057519545
GWAS Ctlgrs1057519545
Max Magnitude0
ClinVar
Risk rs1057519545(C;C)
Alt rs1057519545(C;C)
Reference Rs1057519545(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SYNGAP1
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000006.11:g.33403002G>C
CLNSRC
CLNACC RCV000416992.1,