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rs796053060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796053060(-;GAGC)
Make rs796053060(GAGC;GAGC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166043969
GeneSCN1A
is asnp
is mentioned by
dbSNPrs796053060
dbSNP (classic)rs796053060
ClinGenrs796053060
ebirs796053060
HLIrs796053060
Exacrs796053060
Gnomadrs796053060
Varsomers796053060
LitVarrs796053060
Maprs796053060
PheGenIrs796053060
Biobankrs796053060
1000 genomesrs796053060
hgdprs796053060
ensemblrs796053060
geneviewrs796053060
scholarrs796053060
googlers796053060
pharmgkbrs796053060
gwascentralrs796053060
openSNPrs796053060
23andMers796053060
SNPshotrs796053060
SNPdbers796053060
MSV3drs796053060
GWAS Ctlgrs796053060
Max Magnitude0
ClinVar
Risk rs796053060(GAGC;GAGC)
Alt rs796053060(GAGC;GAGC)
Reference Rs796053060(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene SCN1A
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.166900480_166900483dupGCTC
CLNSRC
CLNACC RCV000189040.1,