rs121908916
From SNPedia
Orientation | minus |
Stabilized | minus |
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 |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 166303162 |
Gene | SCN9A |
is a | snp |
is | mentioned by |
dbSNP | rs121908916 |
dbSNP (classic) | rs121908916 |
ClinGen | rs121908916 |
ebi | rs121908916 |
HLI | rs121908916 |
Exac | rs121908916 |
Gnomad | rs121908916 |
Varsome | rs121908916 |
LitVar | rs121908916 |
Map | rs121908916 |
PheGenI | rs121908916 |
Biobank | rs121908916 |
1000 genomes | rs121908916 |
hgdp | rs121908916 |
ensembl | rs121908916 |
geneview | rs121908916 |
scholar | rs121908916 |
rs121908916 | |
pharmgkb | rs121908916 |
gwascentral | rs121908916 |
openSNP | rs121908916 |
23andMe | rs121908916 |
SNPshot | rs121908916 |
SNPdbe | rs121908916 |
MSV3d | rs121908916 |
GWAS Ctlg | rs121908916 |
Max Magnitude | 4 |
rs121908916, also known as c.829C>T, p.Arg277Ter and R277X, 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.
ClinVar | |
---|---|
Risk | rs121908916(A;A) Rs121908916(T;T) |
Alt | rs121908916(A;A) Rs121908916(T;T) |
Reference | Rs121908916(C;C) |
Significance | Pathogenic |
Disease | Indifference to pain |
Variation | info |
Gene | SCN9A |
CLNDBN | Indifference to pain, congenital, autosomal recessive |
Reversed | 1 |
HGVS | NC_000002.11:g.167159672G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006734.4, |