rs587776859
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776859(-;-) |
Make rs587776859(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 137200923 |
Gene | IFNGR1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776859 |
dbSNP (classic) | rs587776859 |
ClinGen | rs587776859 |
ebi | rs587776859 |
HLI | rs587776859 |
Exac | rs587776859 |
Gnomad | rs587776859 |
Varsome | rs587776859 |
LitVar | rs587776859 |
Map | rs587776859 |
PheGenI | rs587776859 |
Biobank | rs587776859 |
1000 genomes | rs587776859 |
hgdp | rs587776859 |
ensembl | rs587776859 |
geneview | rs587776859 |
scholar | rs587776859 |
rs587776859 | |
pharmgkb | rs587776859 |
gwascentral | rs587776859 |
openSNP | rs587776859 |
23andMe | rs587776859 |
SNPshot | rs587776859 |
SNPdbe | rs587776859 |
MSV3d | rs587776859 |
GWAS Ctlg | rs587776859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776859(A;A) rs587776859(-;-) |
Alt | Rs587776859(A;A) rs587776859(-;-) |
Reference | Rs587776859(T;T) |
Significance | Pathogenic |
Disease | Immunodeficiency 27b |
Variation | info |
Gene | IFNGR1 |
CLNDBN | Immunodeficiency 27b |
Reversed | 1 |
HGVS | NC_000006.11:g.137522060delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019548.30, |