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rs2304016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs2304016(A;G)
Make rs2304016(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165311993
GeneSCN2A
is asnp
is mentioned by
dbSNPrs2304016
ebirs2304016
HLIrs2304016
Exacrs2304016
Varsomers2304016
Maprs2304016
PheGenIrs2304016
hapmaprs2304016
1000 genomesrs2304016
hgdprs2304016
ensemblrs2304016
gopubmedrs2304016
geneviewrs2304016
scholarrs2304016
googlers2304016
pharmgkbrs2304016
gwascentralrs2304016
openSNPrs2304016
23andMers2304016
23andMe allrs2304016
SNP Nexus

SNPshotrs2304016
SNPdbers2304016
MSV3drs2304016
GWAS Ctlgrs2304016
GMAF0.03168
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs2304016 (IVS7-32A>G) is a SNP within the SCN2A (sodium channel, voltage-gated, type II, alpha subunit).

[PMID 18784617] among 471 Chinese epilepsy patients (of which 272 were drug responsive and 199 drug resistant), A-allele carriers associated with resistance to anti-epileptic drugs (OR 2.1, 95% CI 1.2-3.7, p=0.007), haplotypes containing A-alleles were also associated w/ drug resistance



[PMID 22569204OA-icon.png] PharmGKB summary: phenytoin pathway.


GET Evidence
rs2304016
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.00111586
summary



[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population