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rs796053014

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796053014(A;G)
Make rs796053014(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165998037
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs796053014
ebirs796053014
HLIrs796053014
Exacrs796053014
Varsomers796053014
Maprs796053014
PheGenIrs796053014
hapmaprs796053014
1000 genomesrs796053014
hgdprs796053014
ensemblrs796053014
gopubmedrs796053014
geneviewrs796053014
scholarrs796053014
googlers796053014
pharmgkbrs796053014
gwascentralrs796053014
openSNPrs796053014
23andMers796053014
23andMe allrs796053014
SNP Nexus

SNPshotrs796053014
SNPdbers796053014
MSV3drs796053014
GWAS Ctlgrs796053014
Max Magnitude0
ClinVar
Risk rs796053014(G,T;G,T)
Alt rs796053014(G,T;G,T)
Reference rs796053014(A;A)
Significance Pathogenic
Disease not provided Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166854547T>A; NC_000002.11:g.166854547T>C
CLNSRC Quest Diagnostics
CLNACC RCV000188956.1, RCV000188953.1, RCV000201073.1,