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rs587780450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587780450(-;-)
Make rs587780450(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165354646
GeneSCN2A
is asnp
is mentioned by
dbSNPrs587780450
dbSNP (classic)rs587780450
ClinGenrs587780450
ebirs587780450
HLIrs587780450
Exacrs587780450
Gnomadrs587780450
Varsomers587780450
LitVarrs587780450
Maprs587780450
PheGenIrs587780450
Biobankrs587780450
1000 genomesrs587780450
hgdprs587780450
ensemblrs587780450
geneviewrs587780450
scholarrs587780450
googlers587780450
pharmgkbrs587780450
gwascentralrs587780450
openSNPrs587780450
23andMers587780450
SNPshotrs587780450
SNPdbers587780450
MSV3drs587780450
GWAS Ctlgrs587780450
Max Magnitude0
ClinVar
Risk rs587780450(-;-)
Alt rs587780450(-;-)
Reference Rs587780450(A;A)
Significance Pathogenic
Disease Benign familial neonatal-infantile seizures
Variation info
Gene SCN2A
CLNDBN Benign familial neonatal-infantile seizures
Reversed 0
HGVS NC_000002.11:g.166211156delA
CLNSRC
CLNACC RCV000118256.1,