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rs786200989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200989(-;-)
Make rs786200989(-;T)
Make rs786200989(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166039591
GeneSCN1A
is asnp
is mentioned by
dbSNPrs786200989
ebirs786200989
HLIrs786200989
Exacrs786200989
Varsomers786200989
Maprs786200989
PheGenIrs786200989
hapmaprs786200989
1000 genomesrs786200989
hgdprs786200989
ensemblrs786200989
gopubmedrs786200989
geneviewrs786200989
scholarrs786200989
googlers786200989
pharmgkbrs786200989
gwascentralrs786200989
openSNPrs786200989
23andMers786200989
23andMe allrs786200989
SNP Nexus

SNPshotrs786200989
SNPdbers786200989
MSV3drs786200989
GWAS Ctlgrs786200989
Max Magnitude0
ClinVar
Risk rs786200989(T;T)
Alt rs786200989(T;T)
Reference rs786200989(;)
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.166896102dupA
CLNSRC
CLNACC RCV000153897.2, RCV000153898.2,