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rs121908917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Congenital insensitivity to pain
(A;C) 3 carrier of one allele for insensitivity to pain
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position166293354
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs121908917
ebirs121908917
HLIrs121908917
Exacrs121908917
Varsomers121908917
Maprs121908917
PheGenIrs121908917
hapmaprs121908917
1000 genomesrs121908917
hgdprs121908917
ensemblrs121908917
gopubmedrs121908917
geneviewrs121908917
scholarrs121908917
googlers121908917
pharmgkbrs121908917
gwascentralrs121908917
openSNPrs121908917
23andMers121908917
23andMe allrs121908917
SNP Nexus

SNPshotrs121908917
SNPdbers121908917
MSV3drs121908917
GWAS Ctlgrs121908917
Max Magnitude4

rs121908917, also known as c.984C>A, p.Tyr328Ter and Y328X, 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
Variant0015
Relatedalso
ClinVar
Risk rs121908917(A,T;A,T)
Alt rs121908917(A,T;A,T)
Reference rs121908917(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.167149864G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006735.3,