rs886060531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886060531(A;T) |
Make rs886060531(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 35860850 |
Gene | IL7R, LOC105374724 |
is a | snp |
is | mentioned by |
dbSNP | rs886060531 |
dbSNP (classic) | rs886060531 |
ClinGen | rs886060531 |
ebi | rs886060531 |
HLI | rs886060531 |
Exac | rs886060531 |
Gnomad | rs886060531 |
Varsome | rs886060531 |
LitVar | rs886060531 |
Map | rs886060531 |
PheGenI | rs886060531 |
Biobank | rs886060531 |
1000 genomes | rs886060531 |
hgdp | rs886060531 |
ensembl | rs886060531 |
geneview | rs886060531 |
scholar | rs886060531 |
rs886060531 | |
pharmgkb | rs886060531 |
gwascentral | rs886060531 |
openSNP | rs886060531 |
23andMe | rs886060531 |
SNPshot | rs886060531 |
SNPdbe | rs886060531 |
MSV3d | rs886060531 |
GWAS Ctlg | rs886060531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886060531(T;T) |
Alt | rs886060531(T;T) |
Reference | Rs886060531(A;A) |
Significance | Pathogenic |
Disease | Severe Combined Immune Deficiency not provided |
Variation | info |
Gene | IL7R |
CLNDBN | Severe Combined Immune Deficiency not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.35860952A>T |
CLNSRC | |
CLNACC | RCV000341907.1, RCV000485322.1, |