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rs1057519532

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057519532(-;-)
Make rs1057519532(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165994177
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs1057519532
dbSNP (old)rs1057519532
ClinGenrs1057519532
ebirs1057519532
HLIrs1057519532
Exacrs1057519532
Gnomadrs1057519532
Varsomers1057519532
Maprs1057519532
PheGenIrs1057519532
Biobankrs1057519532
1000 genomesrs1057519532
hgdprs1057519532
ensemblrs1057519532
gopubmedrs1057519532
geneviewrs1057519532
scholarrs1057519532
googlers1057519532
pharmgkbrs1057519532
gwascentralrs1057519532
openSNPrs1057519532
23andMers1057519532
23andMe allrs1057519532
SNPshotrs1057519532
SNPdbers1057519532
MSV3drs1057519532
GWAS Ctlgrs1057519532
Max Magnitude0
ClinVar
Risk rs1057519532(-;-)
Alt rs1057519532(-;-)
Reference Rs1057519532(TT;TT)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene LOC102724058 SCN1A
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000002.11:g.166850687_166850688delAA
CLNSRC
CLNACC RCV000416979.1,