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rs121908918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908918(A;T)
Make rs121908918(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166284506
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs121908918
dbSNP (classic)rs121908918
ClinGenrs121908918
ebirs121908918
HLIrs121908918
Exacrs121908918
Gnomadrs121908918
Varsomers121908918
LitVarrs121908918
Maprs121908918
PheGenIrs121908918
Biobankrs121908918
1000 genomesrs121908918
hgdprs121908918
ensemblrs121908918
geneviewrs121908918
scholarrs121908918
googlers121908918
pharmgkbrs121908918
gwascentralrs121908918
openSNPrs121908918
23andMers121908918
SNPshotrs121908918
SNPdbers121908918
MSV3drs121908918
GWAS Ctlgrs121908918
Max Magnitude0
OMIM603415
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908918(T;T)
Alt rs121908918(T;T)
Reference Rs121908918(A;A)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus
Variation info
Gene LOC101929680 SCN9A
CLNDBN Generalized epilepsy with febrile seizures plus, type 7
Reversed 1
HGVS NC_000002.11:g.167141016T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006738.4,