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rs863225038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225038(-;T)
Make rs863225038(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166048921
GeneSCN1A
is asnp
is mentioned by
dbSNPrs863225038
ClinGenrs863225038
ebirs863225038
HLIrs863225038
Exacrs863225038
Varsomers863225038
Maprs863225038
PheGenIrs863225038
hapmaprs863225038
1000 genomesrs863225038
hgdprs863225038
ensemblrs863225038
gopubmedrs863225038
geneviewrs863225038
scholarrs863225038
googlers863225038
pharmgkbrs863225038
gwascentralrs863225038
openSNPrs863225038
23andMers863225038
23andMe allrs863225038
SNP Nexus

SNPshotrs863225038
SNPdbers863225038
MSV3drs863225038
GWAS Ctlgrs863225038
Max Magnitude0
ClinVar
Risk rs863225038(T;T)
Alt rs863225038(T;T)
Reference Rs863225038(-;-)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166905432dupA
CLNSRC Quest Diagnostics
CLNACC RCV000201079.1,