rs111033580
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033580(C;T) |
Make rs111033580(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 118340447 |
Gene | CD3D |
is a | snp |
is | mentioned by |
dbSNP | rs111033580 |
dbSNP (classic) | rs111033580 |
ClinGen | rs111033580 |
ebi | rs111033580 |
HLI | rs111033580 |
Exac | rs111033580 |
Gnomad | rs111033580 |
Varsome | rs111033580 |
LitVar | rs111033580 |
Map | rs111033580 |
PheGenI | rs111033580 |
Biobank | rs111033580 |
1000 genomes | rs111033580 |
hgdp | rs111033580 |
ensembl | rs111033580 |
geneview | rs111033580 |
scholar | rs111033580 |
rs111033580 | |
pharmgkb | rs111033580 |
gwascentral | rs111033580 |
openSNP | rs111033580 |
23andMe | rs111033580 |
SNPshot | rs111033580 |
SNPdbe | rs111033580 |
MSV3d | rs111033580 |
GWAS Ctlg | rs111033580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033580(A;A) rs111033580(T;T) |
Alt | rs111033580(A;A) rs111033580(T;T) |
Reference | Rs111033580(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency 19 |
Variation | info |
Gene | CD3D |
CLNDBN | Immunodeficiency 19 |
Reversed | 1 |
HGVS | NC_000011.9:g.118211162G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083294.3, |