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rs121908908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of one allele for insensitivity to pain
(G;G) 4 Congenital insensitivity to pain
ReferenceGRCh38 38.1/141
Chromosome2
Position166286562
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs121908908
ebirs121908908
HLIrs121908908
Exacrs121908908
Varsomers121908908
Maprs121908908
PheGenIrs121908908
hapmaprs121908908
1000 genomesrs121908908
hgdprs121908908
ensemblrs121908908
gopubmedrs121908908
geneviewrs121908908
scholarrs121908908
googlers121908908
pharmgkbrs121908908
gwascentralrs121908908
openSNPrs121908908
23andMers121908908
23andMe allrs121908908
SNP Nexus

SNPshotrs121908908
SNPdbers121908908
MSV3drs121908908
GWAS Ctlgrs121908908
Max Magnitude4

rs121908908, also known as c.1376C>G, p.Ser459Ter and S459X, is a rare mutation in the SCN9A gene on chromosome 2.

Inherited in a recessive manner, the homozygous minor genotype for this SNP is reported to result in insensitivity to pain.

OMIM603415
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908908(G,T;G,T)
Alt rs121908908(G,T;G,T)
Reference rs121908908(C;C)
Significance Pathogenic
Disease Indifference to pain
Variation info
Gene LOC101929680 SCN9A
CLNDBN Indifference to pain, congenital, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.167143072G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006725.2,