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rs121908910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of one allele for insensitivity to pain
(T;T) 4 Congenital insensitivity to pain
ReferenceGRCh38 38.1/141
Chromosome2
Position166272731
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs121908910
ebirs121908910
HLIrs121908910
Exacrs121908910
Varsomers121908910
Maprs121908910
PheGenIrs121908910
hapmaprs121908910
1000 genomesrs121908910
hgdprs121908910
ensemblrs121908910
gopubmedrs121908910
geneviewrs121908910
scholarrs121908910
googlers121908910
pharmgkbrs121908910
gwascentralrs121908910
openSNPrs121908910
23andMers121908910
23andMe allrs121908910
SNP Nexus

SNPshotrs121908910
SNPdbers121908910
MSV3drs121908910
GWAS Ctlgrs121908910
GMAF0.0004591
Max Magnitude4

rs121908910, also known as c.2986C>T, p.Arg996Cys and R996C, 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
Variant0008
Relatedalso
ClinVar
Risk rs121908910(G,T;G,T)
Alt rs121908910(G,T;G,T)
Reference rs121908910(C;C)
Significance Pathogenic
Disease Paroxysmal extreme pain disorder
Variation info
Gene LOC101929680 SCN9A
CLNDBN Paroxysmal extreme pain disorder
Reversed 1
HGVS NC_000002.11:g.167129241G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006728.2,