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rs121917995

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917995(A;A)
Make rs121917995(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992368
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917995
ebirs121917995
HLIrs121917995
Exacrs121917995
Varsomers121917995
Maprs121917995
PheGenIrs121917995
hapmaprs121917995
1000 genomesrs121917995
hgdprs121917995
ensemblrs121917995
gopubmedrs121917995
geneviewrs121917995
scholarrs121917995
googlers121917995
pharmgkbrs121917995
gwascentralrs121917995
openSNPrs121917995
23andMers121917995
23andMe allrs121917995
SNP Nexus

SNPshotrs121917995
SNPdbers121917995
MSV3drs121917995
GWAS Ctlgrs121917995
Max Magnitude0
ClinVar
Risk rs121917995(A;A)
Alt rs121917995(A;A)
Reference rs121917995(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy Lennox-Gastaut type Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Epileptic encephalopathy Lennox-Gastaut type Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166848878C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059431.1, RCV000176634.1, RCV000188983.1,