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rs1060502187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502187(-;-)
Make rs1060502187(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166058641
GeneSCN1A
is asnp
is mentioned by
dbSNPrs1060502187
dbSNP (old)rs1060502187
ClinGenrs1060502187
ebirs1060502187
HLIrs1060502187
Exacrs1060502187
Gnomadrs1060502187
Varsomers1060502187
Maprs1060502187
PheGenIrs1060502187
Biobankrs1060502187
1000 genomesrs1060502187
hgdprs1060502187
ensemblrs1060502187
gopubmedrs1060502187
geneviewrs1060502187
scholarrs1060502187
googlers1060502187
pharmgkbrs1060502187
gwascentralrs1060502187
openSNPrs1060502187
23andMers1060502187
23andMe allrs1060502187
SNPshotrs1060502187
SNPdbers1060502187
MSV3drs1060502187
GWAS Ctlgrs1060502187
Max Magnitude0
ClinVar
Risk rs1060502187(-;-)
Alt rs1060502187(-;-)
Reference Rs1060502187(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene SCN1A
CLNDBN Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166915151delG
CLNSRC
CLNACC RCV000467130.1,