rs121908912
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908912(G;T) |
Make rs121908912(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 166228972 |
Gene | LOC101929680, SCN9A |
is a | snp |
is | mentioned by |
dbSNP | rs121908912 |
dbSNP (classic) | rs121908912 |
ClinGen | rs121908912 |
ebi | rs121908912 |
HLI | rs121908912 |
Exac | rs121908912 |
Gnomad | rs121908912 |
Varsome | rs121908912 |
LitVar | rs121908912 |
Map | rs121908912 |
PheGenI | rs121908912 |
Biobank | rs121908912 |
1000 genomes | rs121908912 |
hgdp | rs121908912 |
ensembl | rs121908912 |
geneview | rs121908912 |
scholar | rs121908912 |
rs121908912 | |
pharmgkb | rs121908912 |
gwascentral | rs121908912 |
openSNP | rs121908912 |
23andMe | rs121908912 |
SNPshot | rs121908912 |
SNPdbe | rs121908912 |
MSV3d | rs121908912 |
GWAS Ctlg | rs121908912 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908912(T;T) |
Alt | rs121908912(T;T) |
Reference | Rs121908912(G;G) |
Significance | Pathogenic |
Disease | Paroxysmal extreme pain disorder |
Variation | info |
Gene | LOC101929680 SCN9A |
CLNDBN | Paroxysmal extreme pain disorder |
Reversed | 1 |
HGVS | NC_000002.11:g.167085482C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006730.3, |