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rs121908909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Congenital insensitivity to pain
(A;G) 3 carrier of one allele for insensitivity to pain
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position166277133
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs121908909
ebirs121908909
HLIrs121908909
Exacrs121908909
Varsomers121908909
Maprs121908909
PheGenIrs121908909
hapmaprs121908909
1000 genomesrs121908909
hgdprs121908909
ensemblrs121908909
gopubmedrs121908909
geneviewrs121908909
scholarrs121908909
googlers121908909
pharmgkbrs121908909
gwascentralrs121908909
openSNPrs121908909
23andMers121908909
23andMe allrs121908909
SNP Nexus

SNPshotrs121908909
SNPdbers121908909
MSV3drs121908909
GWAS Ctlgrs121908909
Max Magnitude4

rs121908909, also known as c.2691G>A, p.Trp897Ter and W897X, 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
Variant0007
Relatedalso
ClinVar
Risk rs121908909(A;A)
Alt rs121908909(A;A)
Reference rs121908909(G;G)
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.167133643C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006727.2,