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rs746163041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746163041(A;A)
Make rs746163041(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165344869
GeneSCN2A
is asnp
is mentioned by
dbSNPrs746163041
dbSNP (classic)rs746163041
ClinGenrs746163041
ebirs746163041
HLIrs746163041
Exacrs746163041
Gnomadrs746163041
Varsomers746163041
LitVarrs746163041
Maprs746163041
PheGenIrs746163041
Biobankrs746163041
1000 genomesrs746163041
hgdprs746163041
ensemblrs746163041
geneviewrs746163041
scholarrs746163041
googlers746163041
pharmgkbrs746163041
gwascentralrs746163041
openSNPrs746163041
23andMers746163041
SNPshotrs746163041
SNPdbers746163041
MSV3drs746163041
GWAS Ctlgrs746163041
Max Magnitude0
ClinVar
Risk rs746163041(A;A) rs746163041(T;T)
Alt rs746163041(A;A) rs746163041(T;T)
Reference Rs746163041(C;C)
Significance Pathogenic
Disease Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11
Variation info
Gene SCN2A
CLNDBN Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11
Reversed 0
HGVS NC_000002.11:g.166201379C>A
CLNSRC
CLNACC RCV000461521.1,