rs199641706
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199641706(C;C) |
Make rs199641706(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 35867417 |
Gene | IL7R |
is a | snp |
is | mentioned by |
dbSNP | rs199641706 |
dbSNP (classic) | rs199641706 |
ClinGen | rs199641706 |
ebi | rs199641706 |
HLI | rs199641706 |
Exac | rs199641706 |
Gnomad | rs199641706 |
Varsome | rs199641706 |
LitVar | rs199641706 |
Map | rs199641706 |
PheGenI | rs199641706 |
Biobank | rs199641706 |
1000 genomes | rs199641706 |
hgdp | rs199641706 |
ensembl | rs199641706 |
geneview | rs199641706 |
scholar | rs199641706 |
rs199641706 | |
pharmgkb | rs199641706 |
gwascentral | rs199641706 |
openSNP | rs199641706 |
23andMe | rs199641706 |
SNPshot | rs199641706 |
SNPdbe | rs199641706 |
MSV3d | rs199641706 |
GWAS Ctlg | rs199641706 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199641706(A;A) rs199641706(C;C) |
Alt | rs199641706(A;A) rs199641706(C;C) |
Reference | Rs199641706(T;T) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | IL7R |
CLNDBN | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive |
Reversed | 0 |
HGVS | NC_000005.9:g.35867519T>A |
CLNSRC | |
CLNACC | RCV000416601.1, |