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rs17183814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs17183814(A;A)
Make rs17183814(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position165295879
GeneSCN2A
is asnp
is mentioned by
dbSNPrs17183814
dbSNP (classic)rs17183814
ClinGenrs17183814
ebirs17183814
HLIrs17183814
Exacrs17183814
Gnomadrs17183814
Varsomers17183814
LitVarrs17183814
Maprs17183814
PheGenIrs17183814
Biobankrs17183814
1000 genomesrs17183814
hgdprs17183814
ensemblrs17183814
geneviewrs17183814
scholarrs17183814
googlers17183814
pharmgkbrs17183814
gwascentralrs17183814
openSNPrs17183814
23andMers17183814
SNPshotrs17183814
SNPdbers17183814
MSV3drs17183814
GWAS Ctlgrs17183814
GMAF0.073
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 19694741OA-icon.png] Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population


ClinVar
Risk rs17183814(A;A)
Alt rs17183814(A;A)
Reference Rs17183814(G;G)
Significance Other
Disease not specified Early Infantile Epileptic Encephalopathy Benign familial neonatal-infantile seizures
Variation info
Gene SCN2A
CLNDBN not specified Early Infantile Epileptic Encephalopathy, Autosomal Dominant Benign familial neonatal-infantile seizures
Reversed 0
HGVS NC_000002.11:g.166152389G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000118260.3, RCV000278453.1, RCV000379925.1,



[PMID 30693367] SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.