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rs1060502185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502185(C;G)
Make rs1060502185(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166058565
GeneSCN1A
is asnp
is mentioned by
dbSNPrs1060502185
dbSNP (old)rs1060502185
ClinGenrs1060502185
ebirs1060502185
HLIrs1060502185
Exacrs1060502185
Gnomadrs1060502185
Varsomers1060502185
Maprs1060502185
PheGenIrs1060502185
Biobankrs1060502185
1000 genomesrs1060502185
hgdprs1060502185
ensemblrs1060502185
gopubmedrs1060502185
geneviewrs1060502185
scholarrs1060502185
googlers1060502185
pharmgkbrs1060502185
gwascentralrs1060502185
openSNPrs1060502185
23andMers1060502185
23andMe allrs1060502185
SNPshotrs1060502185
SNPdbers1060502185
MSV3drs1060502185
GWAS Ctlgrs1060502185
Max Magnitude0
ClinVar
Risk rs1060502185(A;A) rs1060502185(G;G)
Alt rs1060502185(A;A) rs1060502185(G;G)
Reference Rs1060502185(C;C)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy not provided
Variation info
Gene SCN1A
CLNDBN Early infantile epileptic encephalopathy not provided
Reversed 1
HGVS NC_000002.11:g.166915075G>C; NC_000002.11:g.166915075G>T
CLNSRC
CLNACC RCV000468024.1, RCV000489621.1,