rs483352921
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483352921(C;G) |
Make rs483352921(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38894945 |
Gene | SCN11A |
is a | snp |
is | mentioned by |
dbSNP | rs483352921 |
dbSNP (classic) | rs483352921 |
ClinGen | rs483352921 |
ebi | rs483352921 |
HLI | rs483352921 |
Exac | rs483352921 |
Gnomad | rs483352921 |
Varsome | rs483352921 |
LitVar | rs483352921 |
Map | rs483352921 |
PheGenI | rs483352921 |
Biobank | rs483352921 |
1000 genomes | rs483352921 |
hgdp | rs483352921 |
ensembl | rs483352921 |
geneview | rs483352921 |
scholar | rs483352921 |
rs483352921 | |
pharmgkb | rs483352921 |
gwascentral | rs483352921 |
openSNP | rs483352921 |
23andMe | rs483352921 |
SNPshot | rs483352921 |
SNPdbe | rs483352921 |
MSV3d | rs483352921 |
GWAS Ctlg | rs483352921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352921(G;G) |
Alt | rs483352921(G;G) |
Reference | Rs483352921(C;C) |
Significance | Pathogenic |
Disease | Episodic pain syndrome |
Variation | info |
Gene | SCN11A |
CLNDBN | Episodic pain syndrome, familial, 3 |
Reversed | 1 |
HGVS | NC_000003.11:g.38936436G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074496.3, |