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