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rs121908919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908919(A;G)
Make rs121908919(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166281786
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs121908919
ebirs121908919
HLIrs121908919
Exacrs121908919
Varsomers121908919
Maprs121908919
PheGenIrs121908919
hapmaprs121908919
1000 genomesrs121908919
hgdprs121908919
ensemblrs121908919
gopubmedrs121908919
geneviewrs121908919
scholarrs121908919
googlers121908919
pharmgkbrs121908919
gwascentralrs121908919
openSNPrs121908919
23andMers121908919
23andMe allrs121908919
SNP Nexus

SNPshotrs121908919
SNPdbers121908919
MSV3drs121908919
GWAS Ctlgrs121908919
GMAF0.001377
Max Magnitude0
OMIM603415
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908919(G;G)
Alt rs121908919(G;G)
Reference rs121908919(A;A)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus not specified
Variation info
Gene LOC101929680 SCN9A
CLNDBN Generalized epilepsy with febrile seizures plus, type 7 not specified
Reversed 1
HGVS NC_000002.11:g.167138296T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000006739.3, RCV000153918.3,