rs72553883
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3.1 | Possible: common variable immunodeficiency-2 |
| (C;C) | 0 | common in clinvar |
| Make rs72553883(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 16940415 |
| Gene | TNFRSF13B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72553883 |
| dbSNP (classic) | rs72553883 |
| ClinGen | rs72553883 |
| ebi | rs72553883 |
| HLI | rs72553883 |
| Exac | rs72553883 |
| Gnomad | rs72553883 |
| Varsome | rs72553883 |
| LitVar | rs72553883 |
| Map | rs72553883 |
| PheGenI | rs72553883 |
| Biobank | rs72553883 |
| 1000 genomes | rs72553883 |
| hgdp | rs72553883 |
| ensembl | rs72553883 |
| geneview | rs72553883 |
| scholar | rs72553883 |
| rs72553883 | |
| pharmgkb | rs72553883 |
| gwascentral | rs72553883 |
| openSNP | rs72553883 |
| 23andMe | rs72553883 |
| SNPshot | rs72553883 |
| SNPdbe | rs72553883 |
| MSV3d | rs72553883 |
| GWAS Ctlg | rs72553883 |
| GMAF | 0.003673 |
| Max Magnitude | 3.1 |
| ClinVar | |
|---|---|
| Risk | rs72553883(A;A) rs72553883(T;T) |
| Alt | rs72553883(A;A) rs72553883(T;T) |
| Reference | Rs72553883(C;C) |
| Significance | Pathogenic |
| Disease | Common variable immunodeficiency 2 Immunoglobulin A deficiency 2 not provided Common Variable Immune Deficiency |
| Variation | info |
| Gene | TNFRSF13B |
| CLNDBN | Common variable immunodeficiency 2 Immunoglobulin A deficiency 2 not provided Common Variable Immune Deficiency, Dominant |
| Reversed | 1 |
| HGVS | NC_000017.10:g.16843729G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005625.2, RCV000005626.2, RCV000255118.1, RCV000263268.1, |
