rs35691292
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35691292(C;T) |
Make rs35691292(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 36593525 |
Gene | C11orf74, RAG2 |
is a | snp |
is | mentioned by |
dbSNP | rs35691292 |
dbSNP (classic) | rs35691292 |
ClinGen | rs35691292 |
ebi | rs35691292 |
HLI | rs35691292 |
Exac | rs35691292 |
Gnomad | rs35691292 |
Varsome | rs35691292 |
LitVar | rs35691292 |
Map | rs35691292 |
PheGenI | rs35691292 |
Biobank | rs35691292 |
1000 genomes | rs35691292 |
hgdp | rs35691292 |
ensembl | rs35691292 |
geneview | rs35691292 |
scholar | rs35691292 |
rs35691292 | |
pharmgkb | rs35691292 |
gwascentral | rs35691292 |
openSNP | rs35691292 |
23andMe | rs35691292 |
SNPshot | rs35691292 |
SNPdbe | rs35691292 |
MSV3d | rs35691292 |
GWAS Ctlg | rs35691292 |
Max Magnitude | 0 |
? | (C;C) (C;T) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs35691292(A;A) rs35691292(T;T) |
Alt | rs35691292(A;A) rs35691292(T;T) |
Reference | Rs35691292(C;C) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency not specified |
Variation | info |
Gene | RAG2 C11orf74 |
CLNDBN | Severe combined immunodeficiency, B cell-negative not specified |
Reversed | 1 |
HGVS | NC_000011.9:g.36615075G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014016.24, RCV000433357.1, |