rs104894283
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894283(G;G) |
Make rs104894283(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36576118 |
Gene | RAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894283 |
dbSNP (classic) | rs104894283 |
ClinGen | rs104894283 |
ebi | rs104894283 |
HLI | rs104894283 |
Exac | rs104894283 |
Gnomad | rs104894283 |
Varsome | rs104894283 |
LitVar | rs104894283 |
Map | rs104894283 |
PheGenI | rs104894283 |
Biobank | rs104894283 |
1000 genomes | rs104894283 |
hgdp | rs104894283 |
ensembl | rs104894283 |
geneview | rs104894283 |
scholar | rs104894283 |
rs104894283 | |
pharmgkb | rs104894283 |
gwascentral | rs104894283 |
openSNP | rs104894283 |
23andMe | rs104894283 |
SNPshot | rs104894283 |
SNPdbe | rs104894283 |
MSV3d | rs104894283 |
GWAS Ctlg | rs104894283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894283(G;G) |
Alt | rs104894283(G;G) |
Reference | Rs104894283(T;T) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | RAG1 |
CLNDBN | Severe combined immunodeficiency, B cell-negative |
Reversed | 0 |
HGVS | NC_000011.9:g.36597668T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014023.25, |