rs148001159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148001159(C;C) |
Make rs148001159(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 35860983 |
Gene | IL7R, LOC105374724 |
is a | snp |
is | mentioned by |
dbSNP | rs148001159 |
dbSNP (classic) | rs148001159 |
ClinGen | rs148001159 |
ebi | rs148001159 |
HLI | rs148001159 |
Exac | rs148001159 |
Gnomad | rs148001159 |
Varsome | rs148001159 |
LitVar | rs148001159 |
Map | rs148001159 |
PheGenI | rs148001159 |
Biobank | rs148001159 |
1000 genomes | rs148001159 |
hgdp | rs148001159 |
ensembl | rs148001159 |
geneview | rs148001159 |
scholar | rs148001159 |
rs148001159 | |
pharmgkb | rs148001159 |
gwascentral | rs148001159 |
openSNP | rs148001159 |
23andMe | rs148001159 |
SNPshot | rs148001159 |
SNPdbe | rs148001159 |
MSV3d | rs148001159 |
GWAS Ctlg | rs148001159 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148001159(C;C) |
Alt | rs148001159(C;C) |
Reference | Rs148001159(G;G) |
Significance | Probable-Pathogenic |
Disease | Severe combined immunodeficiency disease Severe Combined Immune Deficiency |
Variation | info |
Gene | IL7R |
CLNDBN | Severe combined immunodeficiency disease Severe Combined Immune Deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.35861085G>C |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030059.1, RCV000397984.1, |