rs148508754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs148508754(C;G) |
Make rs148508754(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36594065 |
Gene | C11orf74, RAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs148508754 |
dbSNP (classic) | rs148508754 |
ClinGen | rs148508754 |
ebi | rs148508754 |
HLI | rs148508754 |
Exac | rs148508754 |
Gnomad | rs148508754 |
Varsome | rs148508754 |
LitVar | rs148508754 |
Map | rs148508754 |
PheGenI | rs148508754 |
Biobank | rs148508754 |
1000 genomes | rs148508754 |
hgdp | rs148508754 |
ensembl | rs148508754 |
geneview | rs148508754 |
scholar | rs148508754 |
rs148508754 | |
pharmgkb | rs148508754 |
gwascentral | rs148508754 |
openSNP | rs148508754 |
23andMe | rs148508754 |
SNPshot | rs148508754 |
SNPdbe | rs148508754 |
MSV3d | rs148508754 |
GWAS Ctlg | rs148508754 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148508754(G;G) |
Alt | rs148508754(G;G) |
Reference | Rs148508754(C;C) |
Significance | Probable-Pathogenic |
Disease | Severe combined immunodeficiency disease |
Variation | info |
Gene | RAG2 C11orf74 |
CLNDBN | Severe combined immunodeficiency disease |
Reversed | 0 |
HGVS | NC_000011.9:g.36615615C>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030395.1, |