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rs1060502188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060502188(G;G)
Make rs1060502188(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166012166
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1060502188
dbSNP (old)rs1060502188
ClinGenrs1060502188
ebirs1060502188
HLIrs1060502188
Exacrs1060502188
Gnomadrs1060502188
Varsomers1060502188
LitVarrs1060502188
Maprs1060502188
PheGenIrs1060502188
Biobankrs1060502188
1000 genomesrs1060502188
hgdprs1060502188
ensemblrs1060502188
gopubmedrs1060502188
geneviewrs1060502188
scholarrs1060502188
googlers1060502188
pharmgkbrs1060502188
gwascentralrs1060502188
openSNPrs1060502188
23andMers1060502188
23andMe allrs1060502188
SNPshotrs1060502188
SNPdbers1060502188
MSV3drs1060502188
GWAS Ctlgrs1060502188
Max Magnitude0
ClinVar
Risk rs1060502188(G;G)
Alt rs1060502188(G;G)
Reference Rs1060502188(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166868676A>C
CLNSRC
CLNACC RCV000475845.1,