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rs1057521537

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057521537(C;C)
Make rs1057521537(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position166002695
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1057521537
dbSNP (old)rs1057521537
ClinGenrs1057521537
ebirs1057521537
HLIrs1057521537
Exacrs1057521537
Gnomadrs1057521537
Varsomers1057521537
Maprs1057521537
PheGenIrs1057521537
Biobankrs1057521537
1000 genomesrs1057521537
hgdprs1057521537
ensemblrs1057521537
gopubmedrs1057521537
geneviewrs1057521537
scholarrs1057521537
googlers1057521537
pharmgkbrs1057521537
gwascentralrs1057521537
openSNPrs1057521537
23andMers1057521537
23andMe allrs1057521537
SNPshotrs1057521537
SNPdbers1057521537
MSV3drs1057521537
GWAS Ctlgrs1057521537
Max Magnitude0
ClinVar
Risk rs1057521537(C;C) rs1057521537(T;T)
Alt rs1057521537(C;C) rs1057521537(T;T)
Reference Rs1057521537(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Early infantile epileptic encephalopathy not provided
Reversed 1
HGVS NC_000002.11:g.166859205C>A; NC_000002.11:g.166859205C>G
CLNSRC
CLNACC RCV000474675.1, RCV000439959.1,