rs398123058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123058(G;T) |
Make rs398123058(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 58681226 |
Gene | LOC105372146, MALT1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123058 |
dbSNP (classic) | rs398123058 |
ClinGen | rs398123058 |
ebi | rs398123058 |
HLI | rs398123058 |
Exac | rs398123058 |
Gnomad | rs398123058 |
Varsome | rs398123058 |
LitVar | rs398123058 |
Map | rs398123058 |
PheGenI | rs398123058 |
Biobank | rs398123058 |
1000 genomes | rs398123058 |
hgdp | rs398123058 |
ensembl | rs398123058 |
geneview | rs398123058 |
scholar | rs398123058 |
rs398123058 | |
pharmgkb | rs398123058 |
gwascentral | rs398123058 |
openSNP | rs398123058 |
23andMe | rs398123058 |
SNPshot | rs398123058 |
SNPdbe | rs398123058 |
MSV3d | rs398123058 |
GWAS Ctlg | rs398123058 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123058(T;T) |
Alt | rs398123058(T;T) |
Reference | Rs398123058(G;G) |
Significance | Pathogenic |
Disease | Immunodeficiency 12 |
Variation | info |
Gene | MALT1 |
CLNDBN | Immunodeficiency 12 |
Reversed | 0 |
HGVS | NC_000018.9:g.56348458G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000056326.5, |