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rs796053124

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796053124(G;T)
Make rs796053124(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165354232
GeneSCN2A
is asnp
is mentioned by
dbSNPrs796053124
ebirs796053124
HLIrs796053124
Exacrs796053124
Varsomers796053124
Maprs796053124
PheGenIrs796053124
hapmaprs796053124
1000 genomesrs796053124
hgdprs796053124
ensemblrs796053124
gopubmedrs796053124
geneviewrs796053124
scholarrs796053124
googlers796053124
pharmgkbrs796053124
gwascentralrs796053124
openSNPrs796053124
23andMers796053124
23andMe allrs796053124
SNP Nexus

SNPshotrs796053124
SNPdbers796053124
MSV3drs796053124
GWAS Ctlgrs796053124
Max Magnitude0
ClinVar
Risk rs796053124(T;T)
Alt rs796053124(T;T)
Reference rs796053124(G;G)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 11
Variation info
Gene SCN2A
CLNDBN not provided Early infantile epileptic encephalopathy 11
Reversed 0
HGVS NC_000002.11:g.166210742G>T
CLNSRC
CLNACC RCV000189127.2, RCV000195526.1,