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rs796053130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796053130(C;T)
Make rs796053130(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165373322
GeneSCN2A
is asnp
is mentioned by
dbSNPrs796053130
dbSNP (classic)rs796053130
ClinGenrs796053130
ebirs796053130
HLIrs796053130
Exacrs796053130
Gnomadrs796053130
Varsomers796053130
LitVarrs796053130
Maprs796053130
PheGenIrs796053130
Biobankrs796053130
1000 genomesrs796053130
hgdprs796053130
ensemblrs796053130
geneviewrs796053130
scholarrs796053130
googlers796053130
pharmgkbrs796053130
gwascentralrs796053130
openSNPrs796053130
23andMers796053130
SNPshotrs796053130
SNPdbers796053130
MSV3drs796053130
GWAS Ctlgrs796053130
Max Magnitude0
ClinVar
Risk rs796053130(T;T)
Alt rs796053130(T;T)
Reference Rs796053130(C;C)
Significance Pathogenic
Disease not provided Epileptic encephalopathy
Variation info
Gene SCN2A
CLNDBN not provided Epileptic encephalopathy
Reversed 0
HGVS NC_000002.11:g.166229832C>T
CLNSRC
CLNACC RCV000189141.2, RCV000416964.1,