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rs121908920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908920(A;G)
Make rs121908920(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166311573
GeneSCN9A
is asnp
is mentioned by
dbSNPrs121908920
dbSNP (classic)rs121908920
ClinGenrs121908920
ebirs121908920
HLIrs121908920
Exacrs121908920
Gnomadrs121908920
Varsomers121908920
LitVarrs121908920
Maprs121908920
PheGenIrs121908920
Biobankrs121908920
1000 genomesrs121908920
hgdprs121908920
ensemblrs121908920
geneviewrs121908920
scholarrs121908920
googlers121908920
pharmgkbrs121908920
gwascentralrs121908920
openSNPrs121908920
23andMers121908920
SNPshotrs121908920
SNPdbers121908920
MSV3drs121908920
GWAS Ctlgrs121908920
Max Magnitude0
OMIM603415
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121908920(G;G)
Alt rs121908920(G;G)
Reference Rs121908920(A;A)
Significance Pathogenic
Disease Febrile seizures not specified
Variation info
Gene SCN9A
CLNDBN Febrile seizures, familial, 3b not specified
Reversed 1
HGVS NC_000002.11:g.167168083T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006740.4, RCV000215091.1,