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rs797044983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTGAACCGC;TTGAACCGC) 0 common in clinvar
Make rs797044983(-;-)
Make rs797044983(-;TTGAACCGC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165991763
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs797044983
dbSNP (classic)rs797044983
ClinGenrs797044983
ebirs797044983
HLIrs797044983
Exacrs797044983
Gnomadrs797044983
Varsomers797044983
LitVarrs797044983
Maprs797044983
PheGenIrs797044983
Biobankrs797044983
1000 genomesrs797044983
hgdprs797044983
ensemblrs797044983
geneviewrs797044983
scholarrs797044983
googlers797044983
pharmgkbrs797044983
gwascentralrs797044983
openSNPrs797044983
23andMers797044983
SNPshotrs797044983
SNPdbers797044983
MSV3drs797044983
GWAS Ctlgrs797044983
Max Magnitude0
ClinVar
Risk rs797044983(-;-)
Alt rs797044983(-;-)
Reference Rs797044983(TTGAACCGC;TTGAACCGC)
Significance Pathogenic
Disease not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.166848273_166848281delGCGGTTCAA
CLNSRC
CLNACC RCV000190447.1,