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rs1057518487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518487(C;C)
Make rs1057518487(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51688775
GeneSCN8A
is asnp
is mentioned by
dbSNPrs1057518487
dbSNP (old)rs1057518487
ClinGenrs1057518487
ebirs1057518487
HLIrs1057518487
Exacrs1057518487
Gnomadrs1057518487
Varsomers1057518487
Maprs1057518487
PheGenIrs1057518487
Biobankrs1057518487
1000 genomesrs1057518487
hgdprs1057518487
ensemblrs1057518487
gopubmedrs1057518487
geneviewrs1057518487
scholarrs1057518487
googlers1057518487
pharmgkbrs1057518487
gwascentralrs1057518487
openSNPrs1057518487
23andMers1057518487
23andMe allrs1057518487
SNPshotrs1057518487
SNPdbers1057518487
MSV3drs1057518487
GWAS Ctlgrs1057518487
Max Magnitude0
ClinVar
Risk rs1057518487(C;C)
Alt rs1057518487(C;C)
Reference Rs1057518487(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene SCN8A
CLNDBN not provided
Reversed 0
HGVS NC_000012.11:g.52082559T>C
CLNSRC
CLNACC RCV000413127.1,