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rs182650126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs182650126(C;C)
Make rs182650126(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position166280452
GeneLOC101929680, SCN9A
is asnp
is mentioned by
dbSNPrs182650126
dbSNP (classic)rs182650126
ClinGenrs182650126
ebirs182650126
HLIrs182650126
Exacrs182650126
Gnomadrs182650126
Varsomers182650126
LitVarrs182650126
Maprs182650126
PheGenIrs182650126
Biobankrs182650126
1000 genomesrs182650126
hgdprs182650126
ensemblrs182650126
geneviewrs182650126
scholarrs182650126
googlers182650126
pharmgkbrs182650126
gwascentralrs182650126
openSNPrs182650126
23andMers182650126
SNPshotrs182650126
SNPdbers182650126
MSV3drs182650126
GWAS Ctlgrs182650126
Max Magnitude0
ClinVar
Risk rs182650126(C;C)
Alt rs182650126(C;C)
Reference Rs182650126(T;T)
Significance Other
Disease Small fiber neuropathy not specified Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain not provided Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene LOC101929680 SCN9A
CLNDBN Small fiber neuropathy not specified Inherited Erythromelalgia Paroxysmal extreme pain disorder Familial Febrile Seizures Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus Congenital Indifference to Pain not provided Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA
Reversed 0
HGVS NC_000002.11:g.167136962T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000144932.4, RCV000218739.4, RCV000281545.1, RCV000284837.1, RCV000324778.1, RCV000340033.1, RCV000379271.1, RCV000398464.1, RCV000416064.1, RCV000467712.1,