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rs727504136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504136(C;T)
Make rs727504136(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166012255
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs727504136
ebirs727504136
HLIrs727504136
Exacrs727504136
Varsomers727504136
Maprs727504136
PheGenIrs727504136
hapmaprs727504136
1000 genomesrs727504136
hgdprs727504136
ensemblrs727504136
gopubmedrs727504136
geneviewrs727504136
scholarrs727504136
googlers727504136
pharmgkbrs727504136
gwascentralrs727504136
openSNPrs727504136
23andMers727504136
23andMe allrs727504136
SNP Nexus

SNPshotrs727504136
SNPdbers727504136
MSV3drs727504136
GWAS Ctlgrs727504136
Max Magnitude0
ClinVar
Risk rs727504136(T;T)
Alt rs727504136(T;T)
Reference rs727504136(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 not provided
Reversed 1
HGVS NC_000002.11:g.166868765G>A
CLNSRC HGMD
CLNACC RCV000153888.5, RCV000153889.3, RCV000188925.2,