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rs764037830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs764037830(A;G)
Make rs764037830(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165994232
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs764037830
ebirs764037830
HLIrs764037830
Exacrs764037830
Varsomers764037830
Maprs764037830
PheGenIrs764037830
hapmaprs764037830
1000 genomesrs764037830
hgdprs764037830
ensemblrs764037830
gopubmedrs764037830
geneviewrs764037830
scholarrs764037830
googlers764037830
pharmgkbrs764037830
gwascentralrs764037830
openSNPrs764037830
23andMers764037830
23andMe allrs764037830
SNP Nexus

SNPshotrs764037830
SNPdbers764037830
MSV3drs764037830
GWAS Ctlgrs764037830
Max Magnitude0
ClinVar
Risk rs764037830(C,G;C,G)
Alt rs764037830(C,G;C,G)
Reference rs764037830(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 0
HGVS NC_000002.11:g.166850742A>C
CLNSRC Peking University
CLNACC RCV000180954.1,