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rs794729200

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794729200(A;C)
Make rs794729200(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165998070
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs794729200
ebirs794729200
HLIrs794729200
Exacrs794729200
Varsomers794729200
Maprs794729200
PheGenIrs794729200
hapmaprs794729200
1000 genomesrs794729200
hgdprs794729200
ensemblrs794729200
gopubmedrs794729200
geneviewrs794729200
scholarrs794729200
googlers794729200
pharmgkbrs794729200
gwascentralrs794729200
openSNPrs794729200
23andMers794729200
23andMe allrs794729200
SNP Nexus

SNPshotrs794729200
SNPdbers794729200
MSV3drs794729200
GWAS Ctlgrs794729200
Max Magnitude0
ClinVar
Risk rs794729200(C;C)
Alt rs794729200(C;C)
Reference rs794729200(A;A)
Significance Probable-Pathogenic
Disease Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC102724058 SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus, type 2
Reversed 1
HGVS NC_000002.11:g.166854580T>G
CLNSRC
CLNACC RCV000184019.1,