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rs796052993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052993(G;T)
Make rs796052993(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166036116
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs796052993
dbSNP (classic)rs796052993
ClinGenrs796052993
ebirs796052993
HLIrs796052993
Exacrs796052993
Gnomadrs796052993
Varsomers796052993
LitVarrs796052993
Maprs796052993
PheGenIrs796052993
Biobankrs796052993
1000 genomesrs796052993
hgdprs796052993
ensemblrs796052993
geneviewrs796052993
scholarrs796052993
googlers796052993
pharmgkbrs796052993
gwascentralrs796052993
openSNPrs796052993
23andMers796052993
SNPshotrs796052993
SNPdbers796052993
MSV3drs796052993
GWAS Ctlgrs796052993
Max Magnitude0
ClinVar
Risk rs796052993(T;T)
Alt rs796052993(T;T)
Reference Rs796052993(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.166892626C>A
CLNSRC
CLNACC RCV000188912.1,