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rs863225036

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225036(A;G)
Make rs863225036(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165996119
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs863225036
ebirs863225036
HLIrs863225036
Exacrs863225036
Varsomers863225036
Maprs863225036
PheGenIrs863225036
hapmaprs863225036
1000 genomesrs863225036
hgdprs863225036
ensemblrs863225036
gopubmedrs863225036
geneviewrs863225036
scholarrs863225036
googlers863225036
pharmgkbrs863225036
gwascentralrs863225036
openSNPrs863225036
23andMers863225036
23andMe allrs863225036
SNP Nexus

SNPshotrs863225036
SNPdbers863225036
MSV3drs863225036
GWAS Ctlgrs863225036
Max Magnitude0
ClinVar
Risk rs863225036(G;G)
Alt rs863225036(G;G)
Reference rs863225036(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166852629T>C
CLNSRC Quest Diagnostics
CLNACC RCV000201155.1,