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rs1060502190

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502190(C;G)
Make rs1060502190(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166002489
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1060502190
dbSNP (old)rs1060502190
ClinGenrs1060502190
ebirs1060502190
HLIrs1060502190
Exacrs1060502190
Gnomadrs1060502190
Varsomers1060502190
Maprs1060502190
PheGenIrs1060502190
Biobankrs1060502190
1000 genomesrs1060502190
hgdprs1060502190
ensemblrs1060502190
gopubmedrs1060502190
geneviewrs1060502190
scholarrs1060502190
googlers1060502190
pharmgkbrs1060502190
gwascentralrs1060502190
openSNPrs1060502190
23andMers1060502190
23andMe allrs1060502190
SNPshotrs1060502190
SNPdbers1060502190
MSV3drs1060502190
GWAS Ctlgrs1060502190
Max Magnitude0
ClinVar
Risk rs1060502190(G;G)
Alt rs1060502190(G;G)
Reference Rs1060502190(C;C)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166858999G>C
CLNSRC
CLNACC RCV000472521.1,