rs121908920
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908920(A;G) |
Make rs121908920(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 166311573 |
Gene | SCN9A |
is a | snp |
is | mentioned by |
dbSNP | rs121908920 |
dbSNP (classic) | rs121908920 |
ClinGen | rs121908920 |
ebi | rs121908920 |
HLI | rs121908920 |
Exac | rs121908920 |
Gnomad | rs121908920 |
Varsome | rs121908920 |
LitVar | rs121908920 |
Map | rs121908920 |
PheGenI | rs121908920 |
Biobank | rs121908920 |
1000 genomes | rs121908920 |
hgdp | rs121908920 |
ensembl | rs121908920 |
geneview | rs121908920 |
scholar | rs121908920 |
rs121908920 | |
pharmgkb | rs121908920 |
gwascentral | rs121908920 |
openSNP | rs121908920 |
23andMe | rs121908920 |
SNPshot | rs121908920 |
SNPdbe | rs121908920 |
MSV3d | rs121908920 |
GWAS Ctlg | rs121908920 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908920(G;G) |
Alt | rs121908920(G;G) |
Reference | Rs121908920(A;A) |
Significance | Pathogenic |
Disease | Febrile seizures not specified |
Variation | info |
Gene | SCN9A |
CLNDBN | Febrile seizures, familial, 3b not specified |
Reversed | 1 |
HGVS | NC_000002.11:g.167168083T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006740.4, RCV000215091.1, |