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rs1057519527

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519527(A;A)
Make rs1057519527(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position165374743
GeneSCN2A
is asnp
is mentioned by
dbSNPrs1057519527
dbSNP (old)rs1057519527
ClinGenrs1057519527
ebirs1057519527
HLIrs1057519527
Exacrs1057519527
Gnomadrs1057519527
Varsomers1057519527
Maprs1057519527
PheGenIrs1057519527
Biobankrs1057519527
1000 genomesrs1057519527
hgdprs1057519527
ensemblrs1057519527
gopubmedrs1057519527
geneviewrs1057519527
scholarrs1057519527
googlers1057519527
pharmgkbrs1057519527
gwascentralrs1057519527
openSNPrs1057519527
23andMers1057519527
23andMe allrs1057519527
SNPshotrs1057519527
SNPdbers1057519527
MSV3drs1057519527
GWAS Ctlgrs1057519527
Max Magnitude0
ClinVar
Risk rs1057519527(A;A)
Alt rs1057519527(A;A)
Reference Rs1057519527(G;G)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SCN2A
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000002.11:g.166231253G>A
CLNSRC
CLNACC RCV000417028.1,