rs606231279
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs606231279(G;TT) |
Make rs606231279(TT;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166228871 |
Gene | LOC101929680, SCN9A |
is a | snp |
is | mentioned by |
dbSNP | rs606231279 |
dbSNP (classic) | rs606231279 |
ClinGen | rs606231279 |
ebi | rs606231279 |
HLI | rs606231279 |
Exac | rs606231279 |
Gnomad | rs606231279 |
Varsome | rs606231279 |
LitVar | rs606231279 |
Map | rs606231279 |
PheGenI | rs606231279 |
Biobank | rs606231279 |
1000 genomes | rs606231279 |
hgdp | rs606231279 |
ensembl | rs606231279 |
geneview | rs606231279 |
scholar | rs606231279 |
rs606231279 | |
pharmgkb | rs606231279 |
gwascentral | rs606231279 |
openSNP | rs606231279 |
23andMe | rs606231279 |
SNPshot | rs606231279 |
SNPdbe | rs606231279 |
MSV3d | rs606231279 |
GWAS Ctlg | rs606231279 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231279(TT;TT) |
Alt | rs606231279(TT;TT) |
Reference | Rs606231279(G;G) |
Significance | Pathogenic |
Disease | NEUROPATHY Indifference to pain |
Variation | info |
Gene | LOC101929680 SCN9A |
CLNDBN | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID Indifference to pain, congenital, autosomal recessive |
Reversed | 1 |
HGVS | NC_000002.11:g.167085381delCinsAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144933.3, RCV000192063.1, |