rs193922462
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922462(C;T) |
Make rs193922462(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36575907 |
Gene | RAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922462 |
dbSNP (classic) | rs193922462 |
ClinGen | rs193922462 |
ebi | rs193922462 |
HLI | rs193922462 |
Exac | rs193922462 |
Gnomad | rs193922462 |
Varsome | rs193922462 |
LitVar | rs193922462 |
Map | rs193922462 |
PheGenI | rs193922462 |
Biobank | rs193922462 |
1000 genomes | rs193922462 |
hgdp | rs193922462 |
ensembl | rs193922462 |
geneview | rs193922462 |
scholar | rs193922462 |
rs193922462 | |
pharmgkb | rs193922462 |
gwascentral | rs193922462 |
openSNP | rs193922462 |
23andMe | rs193922462 |
SNPshot | rs193922462 |
SNPdbe | rs193922462 |
MSV3d | rs193922462 |
GWAS Ctlg | rs193922462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922462(T;T) |
Alt | rs193922462(T;T) |
Reference | Rs193922462(C;C) |
Significance | Probable-Pathogenic |
Disease | Severe combined immunodeficiency disease |
Variation | info |
Gene | RAG1 |
CLNDBN | Severe combined immunodeficiency disease |
Reversed | 0 |
HGVS | NC_000011.9:g.36597457C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030391.1, |