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rs767045134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs767045134(C;C)
Make rs767045134(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166041293
GeneSCN1A
is asnp
is mentioned by
dbSNPrs767045134
ebirs767045134
HLIrs767045134
Exacrs767045134
Varsomers767045134
Maprs767045134
PheGenIrs767045134
hapmaprs767045134
1000 genomesrs767045134
hgdprs767045134
ensemblrs767045134
gopubmedrs767045134
geneviewrs767045134
scholarrs767045134
googlers767045134
pharmgkbrs767045134
gwascentralrs767045134
openSNPrs767045134
23andMers767045134
23andMe allrs767045134
SNP Nexus

SNPshotrs767045134
SNPdbers767045134
MSV3drs767045134
GWAS Ctlgrs767045134
Max Magnitude0
ClinVar
Risk rs767045134(A,C;A,C)
Alt rs767045134(A,C;A,C)
Reference rs767045134(T;T)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 0
HGVS NC_000002.11:g.166897803T>C
CLNSRC Peking University
CLNACC RCV000180869.1,