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rs796053180

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796053180(C;C)
Make rs796053180(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165313992
GeneSCN2A
is asnp
is mentioned by
dbSNPrs796053180
ebirs796053180
HLIrs796053180
Exacrs796053180
Varsomers796053180
Maprs796053180
PheGenIrs796053180
hapmaprs796053180
1000 genomesrs796053180
hgdprs796053180
ensemblrs796053180
gopubmedrs796053180
geneviewrs796053180
scholarrs796053180
googlers796053180
pharmgkbrs796053180
gwascentralrs796053180
openSNPrs796053180
23andMers796053180
23andMe allrs796053180
SNP Nexus

SNPshotrs796053180
SNPdbers796053180
MSV3drs796053180
GWAS Ctlgrs796053180
Max Magnitude0
ClinVar
Risk rs796053180(C;C)
Alt rs796053180(C;C)
Reference rs796053180(G;G)
Significance Probable-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.166170502G>C
CLNSRC
CLNACC RCV000189206.1, RCV000190517.2,