Have questions? Visit https://www.reddit.com/r/SNPedia

rs672601319

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs672601319(A;G)
Make rs672601319(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position51688810
GeneSCN8A
is asnp
is mentioned by
dbSNPrs672601319
ebirs672601319
HLIrs672601319
Exacrs672601319
Varsomers672601319
Maprs672601319
PheGenIrs672601319
hapmaprs672601319
1000 genomesrs672601319
hgdprs672601319
ensemblrs672601319
gopubmedrs672601319
geneviewrs672601319
scholarrs672601319
googlers672601319
pharmgkbrs672601319
gwascentralrs672601319
openSNPrs672601319
23andMers672601319
23andMe allrs672601319
SNP Nexus

SNPshotrs672601319
SNPdbers672601319
MSV3drs672601319
GWAS Ctlgrs672601319
Max Magnitude0
ClinVar
Risk rs672601319(G;G)
Alt rs672601319(G;G)
Reference rs672601319(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 13
Variation info
Gene SCN8A
CLNDBN Early infantile epileptic encephalopathy 13
Reversed 0
HGVS NC_000012.11:g.52082594A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149436.5,