rs7749390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs7749390(A;G) |
Make rs7749390(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 137219233 |
Gene | IFNGR1 |
is a | snp |
is | mentioned by |
dbSNP | rs7749390 |
dbSNP (classic) | rs7749390 |
ClinGen | rs7749390 |
ebi | rs7749390 |
HLI | rs7749390 |
Exac | rs7749390 |
Gnomad | rs7749390 |
Varsome | rs7749390 |
LitVar | rs7749390 |
Map | rs7749390 |
PheGenI | rs7749390 |
Biobank | rs7749390 |
1000 genomes | rs7749390 |
hgdp | rs7749390 |
ensembl | rs7749390 |
geneview | rs7749390 |
scholar | rs7749390 |
rs7749390 | |
pharmgkb | rs7749390 |
gwascentral | rs7749390 |
openSNP | rs7749390 |
23andMe | rs7749390 |
SNPshot | rs7749390 |
SNPdbe | rs7749390 |
MSV3d | rs7749390 |
GWAS Ctlg | rs7749390 |
GMAF | 0.4458 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20500698] Analysis of functional SNP in ifng/ifngr1 in Chinese Han population with tuberculosis
[PMID 20412699] Lack of association between IFNGR1 gene polymorphisms and biopsy-proven giant cell arteritis
[PMID 17136124] IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan.
[PMID 21458658] Human atopic dermatitis complicated by eczema herpeticum is associated with abnormalities in IFN-gamma response.
ClinVar | |
---|---|
Risk | rs7749390(G;G) |
Alt | rs7749390(G;G) |
Reference | Rs7749390(A;A) |
Significance | Non-pathogenic |
Disease | Familial Atypical Mycobacteriosis not specified |
Variation | info |
Gene | IFNGR1 |
CLNDBN | Familial Atypical Mycobacteriosis, Autosomal Recessive not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.137540370A>G |
CLNSRC | |
CLNACC | RCV000285373.1, RCV000455036.1, |
[PMID 30100739] Polymorphism of IFN-γ +874T/A associated with production of IFN-γ affects human papillomavirus susceptibility in rural women from Luohe, Henan, China.