rs193922575
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193922575(A;C) |
Make rs193922575(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36593841 |
Gene | C11orf74, RAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922575 |
dbSNP (classic) | rs193922575 |
ClinGen | rs193922575 |
ebi | rs193922575 |
HLI | rs193922575 |
Exac | rs193922575 |
Gnomad | rs193922575 |
Varsome | rs193922575 |
LitVar | rs193922575 |
Map | rs193922575 |
PheGenI | rs193922575 |
Biobank | rs193922575 |
1000 genomes | rs193922575 |
hgdp | rs193922575 |
ensembl | rs193922575 |
geneview | rs193922575 |
scholar | rs193922575 |
rs193922575 | |
pharmgkb | rs193922575 |
gwascentral | rs193922575 |
openSNP | rs193922575 |
23andMe | rs193922575 |
SNPshot | rs193922575 |
SNPdbe | rs193922575 |
MSV3d | rs193922575 |
GWAS Ctlg | rs193922575 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922575(C;C) rs193922575(G;G) |
Alt | rs193922575(C;C) rs193922575(G;G) |
Reference | Rs193922575(A;A) |
Significance | Probable-Pathogenic |
Disease | Severe combined immunodeficiency disease |
Variation | info |
Gene | RAG2 C11orf74 |
CLNDBN | Severe combined immunodeficiency disease |
Reversed | 1 |
HGVS | NC_000011.9:g.36615391T>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030399.1, |