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rs146878122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146878122(C;C)
Make rs146878122(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position166009822
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs146878122
ebirs146878122
HLIrs146878122
Exacrs146878122
Varsomers146878122
Maprs146878122
PheGenIrs146878122
hapmaprs146878122
1000 genomesrs146878122
hgdprs146878122
ensemblrs146878122
gopubmedrs146878122
geneviewrs146878122
scholarrs146878122
googlers146878122
pharmgkbrs146878122
gwascentralrs146878122
openSNPrs146878122
23andMers146878122
23andMe allrs146878122
SNP Nexus

SNPshotrs146878122
SNPdbers146878122
MSV3drs146878122
GWAS Ctlgrs146878122
Max Magnitude0
ClinVar
Risk rs146878122(A,C;A,C)
Alt rs146878122(A,C;A,C)
Reference rs146878122(G;G)
Significance Pathogenic
Disease not specified Severe myoclonic epilepsy in infancy
Variation info
Gene LOC102724058 SCN1A
CLNDBN not specified Severe myoclonic epilepsy in infancy
Reversed 0
HGVS NC_000002.11:g.166866332G>A; NC_000002.11:g.166866332G>C
CLNSRC Peking University
CLNACC RCV000188933.2, RCV000180922.1,