rs121908909
From SNPedia
Orientation | minus |
Stabilized | minus |
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 |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 166277133 |
Gene | LOC101929680, SCN9A |
is a | snp |
is | mentioned by |
dbSNP | rs121908909 |
dbSNP (classic) | rs121908909 |
ClinGen | rs121908909 |
ebi | rs121908909 |
HLI | rs121908909 |
Exac | rs121908909 |
Gnomad | rs121908909 |
Varsome | rs121908909 |
LitVar | rs121908909 |
Map | rs121908909 |
PheGenI | rs121908909 |
Biobank | rs121908909 |
1000 genomes | rs121908909 |
hgdp | rs121908909 |
ensembl | rs121908909 |
geneview | rs121908909 |
scholar | rs121908909 |
rs121908909 | |
pharmgkb | rs121908909 |
gwascentral | rs121908909 |
openSNP | rs121908909 |
23andMe | rs121908909 |
SNPshot | rs121908909 |
SNPdbe | rs121908909 |
MSV3d | rs121908909 |
GWAS Ctlg | rs121908909 |
Max Magnitude | 4 |
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.
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 | RCV000006727.3, |