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rs869312690

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312690(A;G)
Make rs869312690(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position51806762
GeneSCN8A
is asnp
is mentioned by
dbSNPrs869312690
ebirs869312690
HLIrs869312690
Exacrs869312690
Varsomers869312690
Maprs869312690
PheGenIrs869312690
hapmaprs869312690
1000 genomesrs869312690
hgdprs869312690
ensemblrs869312690
gopubmedrs869312690
geneviewrs869312690
scholarrs869312690
googlers869312690
pharmgkbrs869312690
gwascentralrs869312690
openSNPrs869312690
23andMers869312690
23andMe allrs869312690
SNP Nexus

SNPshotrs869312690
SNPdbers869312690
MSV3drs869312690
GWAS Ctlgrs869312690
Max Magnitude0
ClinVar
Risk rs869312690(G;G)
Alt rs869312690(G;G)
Reference rs869312690(A;A)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52200546A>G
CLNSRC
CLNACC RCV000209897.1,