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rs1060502183

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502183(-;-)
Make rs1060502183(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166002520
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1060502183
dbSNP (old)rs1060502183
ClinGenrs1060502183
ebirs1060502183
HLIrs1060502183
Exacrs1060502183
Gnomadrs1060502183
Varsomers1060502183
Maprs1060502183
PheGenIrs1060502183
Biobankrs1060502183
1000 genomesrs1060502183
hgdprs1060502183
ensemblrs1060502183
gopubmedrs1060502183
geneviewrs1060502183
scholarrs1060502183
googlers1060502183
pharmgkbrs1060502183
gwascentralrs1060502183
openSNPrs1060502183
23andMers1060502183
23andMe allrs1060502183
SNPshotrs1060502183
SNPdbers1060502183
MSV3drs1060502183
GWAS Ctlgrs1060502183
Max Magnitude0
ClinVar
Risk rs1060502183(-;-)
Alt rs1060502183(-;-)
Reference Rs1060502183(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166859030delT
CLNSRC
CLNACC RCV000472741.1,