rs28933392
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28933392(A;A) |
Make rs28933392(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36575468 |
Gene | RAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs28933392 |
dbSNP (classic) | rs28933392 |
ClinGen | rs28933392 |
ebi | rs28933392 |
HLI | rs28933392 |
Exac | rs28933392 |
Gnomad | rs28933392 |
Varsome | rs28933392 |
LitVar | rs28933392 |
Map | rs28933392 |
PheGenI | rs28933392 |
Biobank | rs28933392 |
1000 genomes | rs28933392 |
hgdp | rs28933392 |
ensembl | rs28933392 |
geneview | rs28933392 |
scholar | rs28933392 |
rs28933392 | |
pharmgkb | rs28933392 |
gwascentral | rs28933392 |
openSNP | rs28933392 |
23andMe | rs28933392 |
SNPshot | rs28933392 |
SNPdbe | rs28933392 |
MSV3d | rs28933392 |
GWAS Ctlg | rs28933392 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933392(A;A) |
Alt | rs28933392(A;A) |
Reference | Rs28933392(G;G) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | RAG1 |
CLNDBN | Severe combined immunodeficiency, B cell-negative |
Reversed | 0 |
HGVS | NC_000011.9:g.36597018G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014021.24, |