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rs796052973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796052973(A;G)
Make rs796052973(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166046870
GeneSCN1A
is asnp
is mentioned by
dbSNPrs796052973
dbSNP (classic)rs796052973
ClinGenrs796052973
ebirs796052973
HLIrs796052973
Exacrs796052973
Gnomadrs796052973
Varsomers796052973
LitVarrs796052973
Maprs796052973
PheGenIrs796052973
Biobankrs796052973
1000 genomesrs796052973
hgdprs796052973
ensemblrs796052973
geneviewrs796052973
scholarrs796052973
googlers796052973
pharmgkbrs796052973
gwascentralrs796052973
openSNPrs796052973
23andMers796052973
SNPshotrs796052973
SNPdbers796052973
MSV3drs796052973
GWAS Ctlgrs796052973
Max Magnitude0
ClinVar
Risk rs796052973(G;G)
Alt rs796052973(G;G)
Reference Rs796052973(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene SCN1A
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.166903380T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000188864.2,