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rs121908912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908912(G;T)
Make rs121908912(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166228972
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs121908912
dbSNP (classic)rs121908912
ClinGenrs121908912
ebirs121908912
HLIrs121908912
Exacrs121908912
Gnomadrs121908912
Varsomers121908912
LitVarrs121908912
Maprs121908912
PheGenIrs121908912
Biobankrs121908912
1000 genomesrs121908912
hgdprs121908912
ensemblrs121908912
geneviewrs121908912
scholarrs121908912
googlers121908912
pharmgkbrs121908912
gwascentralrs121908912
openSNPrs121908912
23andMers121908912
SNPshotrs121908912
SNPdbers121908912
MSV3drs121908912
GWAS Ctlgrs121908912
Max Magnitude0
OMIM603415
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908912(T;T)
Alt rs121908912(T;T)
Reference Rs121908912(G;G)
Significance Pathogenic
Disease Paroxysmal extreme pain disorder
Variation info
Gene LOC101929680 SCN9A
CLNDBN Paroxysmal extreme pain disorder
Reversed 1
HGVS NC_000002.11:g.167085482C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006730.3,