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rs1060503102

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503102(C;T)
Make rs1060503102(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165388682
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1060503102
dbSNP (old)rs1060503102
ClinGenrs1060503102
ebirs1060503102
HLIrs1060503102
Exacrs1060503102
Gnomadrs1060503102
Varsomers1060503102
Maprs1060503102
PheGenIrs1060503102
Biobankrs1060503102
1000 genomesrs1060503102
hgdprs1060503102
ensemblrs1060503102
gopubmedrs1060503102
geneviewrs1060503102
scholarrs1060503102
googlers1060503102
pharmgkbrs1060503102
gwascentralrs1060503102
openSNPrs1060503102
23andMers1060503102
23andMe allrs1060503102
SNPshotrs1060503102
SNPdbers1060503102
MSV3drs1060503102
GWAS Ctlgrs1060503102
Max Magnitude0
ClinVar
Risk rs1060503102(T;T)
Alt rs1060503102(T;T)
Reference Rs1060503102(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.166245192C>T
CLNSRC
CLNACC RCV000470319.1,