rs121917894
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917894(A;A) |
Make rs121917894(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36593483 |
Gene | C11orf74, RAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs121917894 |
dbSNP (classic) | rs121917894 |
ClinGen | rs121917894 |
ebi | rs121917894 |
HLI | rs121917894 |
Exac | rs121917894 |
Gnomad | rs121917894 |
Varsome | rs121917894 |
LitVar | rs121917894 |
Map | rs121917894 |
PheGenI | rs121917894 |
Biobank | rs121917894 |
1000 genomes | rs121917894 |
hgdp | rs121917894 |
ensembl | rs121917894 |
geneview | rs121917894 |
scholar | rs121917894 |
rs121917894 | |
pharmgkb | rs121917894 |
gwascentral | rs121917894 |
openSNP | rs121917894 |
23andMe | rs121917894 |
SNPshot | rs121917894 |
SNPdbe | rs121917894 |
MSV3d | rs121917894 |
GWAS Ctlg | rs121917894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917894(A;A) rs121917894(T;T) |
Alt | rs121917894(A;A) rs121917894(T;T) |
Reference | Rs121917894(G;G) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency Histiocytic medullary reticulosis |
Variation | info |
Gene | RAG2 C11orf74 |
CLNDBN | Severe combined immunodeficiency, B cell-negative Histiocytic medullary reticulosis |
Reversed | 1 |
HGVS | NC_000011.9:g.36615033C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014010.23, RCV000014011.24, |