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rs727504140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504140(A;G)
Make rs727504140(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166038134
GeneSCN1A
is asnp
is mentioned by
dbSNPrs727504140
ebirs727504140
HLIrs727504140
Exacrs727504140
Varsomers727504140
Maprs727504140
PheGenIrs727504140
hapmaprs727504140
1000 genomesrs727504140
hgdprs727504140
ensemblrs727504140
gopubmedrs727504140
geneviewrs727504140
scholarrs727504140
googlers727504140
pharmgkbrs727504140
gwascentralrs727504140
openSNPrs727504140
23andMers727504140
23andMe allrs727504140
SNP Nexus

SNPshotrs727504140
SNPdbers727504140
MSV3drs727504140
GWAS Ctlgrs727504140
Max Magnitude0
ClinVar
Risk rs727504140(G;G)
Alt rs727504140(G;G)
Reference rs727504140(A;A)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2
Reversed 1
HGVS NC_000002.11:g.166894644T>C
CLNSRC
CLNACC RCV000153895.3, RCV000153896.3,