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rs199727342

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199727342(T;T)
Make rs199727342(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165992369
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs199727342
ebirs199727342
HLIrs199727342
Exacrs199727342
Varsomers199727342
Maprs199727342
PheGenIrs199727342
hapmaprs199727342
1000 genomesrs199727342
hgdprs199727342
ensemblrs199727342
gopubmedrs199727342
geneviewrs199727342
scholarrs199727342
googlers199727342
pharmgkbrs199727342
gwascentralrs199727342
openSNPrs199727342
23andMers199727342
23andMe allrs199727342
SNP Nexus

SNPshotrs199727342
SNPdbers199727342
MSV3drs199727342
GWAS Ctlgrs199727342
Max Magnitude0
ClinVar
Risk rs199727342(A,T;A,T)
Alt rs199727342(A,T;A,T)
Reference rs199727342(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 0
HGVS NC_000002.11:g.166848879G>A
CLNSRC Quest Diagnostics
CLNACC RCV000180823.2, RCV000188982.2,