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rs863225035

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225035(A;A)
Make rs863225035(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166002490
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs863225035
ebirs863225035
HLIrs863225035
Exacrs863225035
Varsomers863225035
Maprs863225035
PheGenIrs863225035
hapmaprs863225035
1000 genomesrs863225035
hgdprs863225035
ensemblrs863225035
gopubmedrs863225035
geneviewrs863225035
scholarrs863225035
googlers863225035
pharmgkbrs863225035
gwascentralrs863225035
openSNPrs863225035
23andMers863225035
23andMe allrs863225035
SNP Nexus

SNPshotrs863225035
SNPdbers863225035
MSV3drs863225035
GWAS Ctlgrs863225035
Max Magnitude0
ClinVar
Risk rs863225035(A;A)
Alt rs863225035(A;A)
Reference rs863225035(T;T)
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.166859000A>T
CLNSRC Quest Diagnostics
CLNACC RCV000201009.1,