rs104895472
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs104895472(A;T) |
| Make rs104895472(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 50711398 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895472 |
| dbSNP (classic) | rs104895472 |
| ClinGen | rs104895472 |
| ebi | rs104895472 |
| HLI | rs104895472 |
| Exac | rs104895472 |
| Gnomad | rs104895472 |
| Varsome | rs104895472 |
| LitVar | rs104895472 |
| Map | rs104895472 |
| PheGenI | rs104895472 |
| Biobank | rs104895472 |
| 1000 genomes | rs104895472 |
| hgdp | rs104895472 |
| ensembl | rs104895472 |
| geneview | rs104895472 |
| scholar | rs104895472 |
| rs104895472 | |
| pharmgkb | rs104895472 |
| gwascentral | rs104895472 |
| openSNP | rs104895472 |
| 23andMe | rs104895472 |
| SNPshot | rs104895472 |
| SNPdbe | rs104895472 |
| MSV3d | rs104895472 |
| GWAS Ctlg | rs104895472 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895472(T;T) |
| Alt | rs104895472(T;T) |
| Reference | Rs104895472(A;A) |
| Significance | Pathogenic |
| Disease | Sarcoidosis Blau syndrome |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | Sarcoidosis, early-onset Blau syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50745309A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004963.5, RCV000416481.1, |
[PMID 15459013] Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
