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rs187558439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs187558439(G;T)
Make rs187558439(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position166204368
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs187558439
dbSNP (classic)rs187558439
ClinGenrs187558439
ebirs187558439
HLIrs187558439
Exacrs187558439
Gnomadrs187558439
Varsomers187558439
LitVarrs187558439
Maprs187558439
PheGenIrs187558439
Biobankrs187558439
1000 genomesrs187558439
hgdprs187558439
ensemblrs187558439
geneviewrs187558439
scholarrs187558439
googlers187558439
pharmgkbrs187558439
gwascentralrs187558439
openSNPrs187558439
23andMers187558439
SNPshotrs187558439
SNPdbers187558439
MSV3drs187558439
GWAS Ctlgrs187558439
Max Magnitude0
ClinVar
Risk rs187558439(A;A) rs187558439(T;T)
Alt rs187558439(A;A) rs187558439(T;T)
Reference Rs187558439(G;G)
Significance Pathogenic
Disease not provided Small fiber neuropathy Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain
Variation info
Gene LOC101929680 SCN9A
CLNDBN not provided Small fiber neuropathy Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain
Reversed 0
HGVS NC_000002.11:g.167060878G>A; NC_000002.11:g.167060878G>T
CLNSRC
CLNACC RCV000236436.1, RCV000261220.1, RCV000283499.1, RCV000291970.1, RCV000322333.1, RCV000323359.1, RCV000380287.1, RCV000383965.1,