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rs1057519529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519529(C;C)
Make rs1057519529(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166043864
GeneSCN1A
is asnp
is mentioned by
dbSNPrs1057519529
dbSNP (old)rs1057519529
ClinGenrs1057519529
ebirs1057519529
HLIrs1057519529
Exacrs1057519529
Gnomadrs1057519529
Varsomers1057519529
LitVarrs1057519529
Maprs1057519529
PheGenIrs1057519529
Biobankrs1057519529
1000 genomesrs1057519529
hgdprs1057519529
ensemblrs1057519529
gopubmedrs1057519529
geneviewrs1057519529
scholarrs1057519529
googlers1057519529
pharmgkbrs1057519529
gwascentralrs1057519529
openSNPrs1057519529
23andMers1057519529
23andMe allrs1057519529
SNPshotrs1057519529
SNPdbers1057519529
MSV3drs1057519529
GWAS Ctlgrs1057519529
Max Magnitude0
ClinVar
Risk rs1057519529(C;C)
Alt rs1057519529(C;C)
Reference Rs1057519529(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SCN1A
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166900374C>G
CLNSRC
CLNACC RCV000417000.1,