rs104895444
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104895444(A;A) |
| Make rs104895444(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 50712288 |
| Gene | NOD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895444 |
| dbSNP (classic) | rs104895444 |
| ClinGen | rs104895444 |
| ebi | rs104895444 |
| HLI | rs104895444 |
| Exac | rs104895444 |
| Gnomad | rs104895444 |
| Varsome | rs104895444 |
| LitVar | rs104895444 |
| Map | rs104895444 |
| PheGenI | rs104895444 |
| Biobank | rs104895444 |
| 1000 genomes | rs104895444 |
| hgdp | rs104895444 |
| ensembl | rs104895444 |
| geneview | rs104895444 |
| scholar | rs104895444 |
| rs104895444 | |
| pharmgkb | rs104895444 |
| gwascentral | rs104895444 |
| openSNP | rs104895444 |
| 23andMe | rs104895444 |
| SNPshot | rs104895444 |
| SNPdbe | rs104895444 |
| MSV3d | rs104895444 |
| GWAS Ctlg | rs104895444 |
| Max Magnitude | 0 |
NOD2 SNP, aka V793M
One of 11 SNPs used in a genetic risk score for inflammatory bowel disease [PMID 27802154
]
| ClinVar | |
|---|---|
| Risk | rs104895444(A;A) |
| Alt | rs104895444(A;A) |
| Reference | Rs104895444(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Sarcoidosis Crohn disease |
| Variation | info |
| Gene | NOD2 |
| CLNDBN | Sarcoidosis, early-onset Crohn disease |
| Reversed | 0 |
| HGVS | NC_000016.9:g.50746199G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000084108.1, RCV000405468.1, |
