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rs138877187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138877187(G;T)
Make rs138877187(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166045081
GeneSCN1A
is asnp
is mentioned by
dbSNPrs138877187
ebirs138877187
HLIrs138877187
Exacrs138877187
Varsomers138877187
Maprs138877187
PheGenIrs138877187
hapmaprs138877187
1000 genomesrs138877187
hgdprs138877187
ensemblrs138877187
gopubmedrs138877187
geneviewrs138877187
scholarrs138877187
googlers138877187
pharmgkbrs138877187
gwascentralrs138877187
openSNPrs138877187
23andMers138877187
23andMe allrs138877187
SNP Nexus

SNPshotrs138877187
SNPdbers138877187
MSV3drs138877187
GWAS Ctlgrs138877187
Max Magnitude0
ClinVar
Risk rs138877187(A,T;A,T)
Alt rs138877187(A,T;A,T)
Reference rs138877187(G;G)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 0
HGVS NC_000002.11:g.166901591G>A
CLNSRC Peking University
CLNACC RCV000180802.1, RCV000188870.1,