rs121434494
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs121434494(C;T) |
Make rs121434494(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 18075812 |
Gene | IL12RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs121434494 |
dbSNP (classic) | rs121434494 |
ClinGen | rs121434494 |
ebi | rs121434494 |
HLI | rs121434494 |
Exac | rs121434494 |
Gnomad | rs121434494 |
Varsome | rs121434494 |
LitVar | rs121434494 |
Map | rs121434494 |
PheGenI | rs121434494 |
Biobank | rs121434494 |
1000 genomes | rs121434494 |
hgdp | rs121434494 |
ensembl | rs121434494 |
geneview | rs121434494 |
scholar | rs121434494 |
rs121434494 | |
pharmgkb | rs121434494 |
gwascentral | rs121434494 |
openSNP | rs121434494 |
23andMe | rs121434494 |
SNPshot | rs121434494 |
SNPdbe | rs121434494 |
MSV3d | rs121434494 |
GWAS Ctlg | rs121434494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434494(T;T) |
Alt | rs121434494(T;T) |
Reference | Rs121434494(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency 30 |
Variation | info |
Gene | IL12RB1 |
CLNDBN | Immunodeficiency 30 |
Reversed | 1 |
HGVS | NC_000019.9:g.18186622G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008500.3, |