rs10127939
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | immunodeficiency, but not for 23andMe users |
| (T;T) | 0 | common in clinvar |
| Make rs10127939(A;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 161548543 |
| Gene | FCGR3A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10127939 |
| dbSNP (classic) | rs10127939 |
| ClinGen | rs10127939 |
| ebi | rs10127939 |
| HLI | rs10127939 |
| Exac | rs10127939 |
| Gnomad | rs10127939 |
| Varsome | rs10127939 |
| LitVar | rs10127939 |
| Map | rs10127939 |
| PheGenI | rs10127939 |
| Biobank | rs10127939 |
| 1000 genomes | rs10127939 |
| hgdp | rs10127939 |
| ensembl | rs10127939 |
| geneview | rs10127939 |
| scholar | rs10127939 |
| rs10127939 | |
| pharmgkb | rs10127939 |
| gwascentral | rs10127939 |
| openSNP | rs10127939 |
| 23andMe | rs10127939 |
| SNPshot | rs10127939 |
| SNPdbe | rs10127939 |
| MSV3d | rs10127939 |
| GWAS Ctlg | rs10127939 |
| GMAF | 0.03581 |
| Max Magnitude | 1 |
| ? | (A;A) (A;C) (C;C) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs10127939(A;A) rs10127939(G;G) |
| Alt | Rs10127939(A;A) rs10127939(G;G) |
| Reference | Rs10127939(T;T) |
| Significance | Pathogenic |
| Disease | not specified Immunodeficiency 20 |
| Variation | info |
| Gene | FCGR3A |
| CLNDBN | not specified Immunodeficiency 20 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.161518333A>C; NC_000001.10:g.161518333A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000454434.1, RCV000015953.3, RCV000454581.1, |
[PMID 24375423] FcγRIIIa SNPs and haplotypes affect human IgG binding and association with lupus nephritis in African Americans
[PMID 24782186
] Fcγ Receptor IIIa Single-Nucleotide Polymorphisms and Haplotypes Affect Human IgG Binding and Are Associated With Lupus Nephritis in African Americans
