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rs727504142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504142(C;C)
Make rs727504142(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166052847
GeneSCN1A
is asnp
is mentioned by
dbSNPrs727504142
ebirs727504142
HLIrs727504142
Exacrs727504142
Varsomers727504142
Maprs727504142
PheGenIrs727504142
hapmaprs727504142
1000 genomesrs727504142
hgdprs727504142
ensemblrs727504142
gopubmedrs727504142
geneviewrs727504142
scholarrs727504142
googlers727504142
pharmgkbrs727504142
gwascentralrs727504142
openSNPrs727504142
23andMers727504142
23andMe allrs727504142
SNP Nexus

SNPshotrs727504142
SNPdbers727504142
MSV3drs727504142
GWAS Ctlgrs727504142
Max Magnitude0
ClinVar
Risk rs727504142(C;C)
Alt rs727504142(C;C)
Reference rs727504142(G;G)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166909357C>G
CLNSRC Peking University
CLNACC RCV000153902.3, RCV000180927.1,