rs104895431
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs104895431(C;T) | 
| Make rs104895431(T;T) | 
| Reference | GRCh38.p2 38.2/147 | 
| Chromosome | 16 | 
| Position | 50711203 | 
| Gene | NOD2 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs104895431 | 
| dbSNP (classic) | rs104895431 | 
| ClinGen | rs104895431 | 
| ebi | rs104895431 | 
| HLI | rs104895431 | 
| Exac | rs104895431 | 
| Gnomad | rs104895431 | 
| Varsome | rs104895431 | 
| LitVar | rs104895431 | 
| Map | rs104895431 | 
| PheGenI | rs104895431 | 
| Biobank | rs104895431 | 
| 1000 genomes | rs104895431 | 
| hgdp | rs104895431 | 
| ensembl | rs104895431 | 
| geneview | rs104895431 | 
| scholar | rs104895431 | 
| rs104895431 | |
| pharmgkb | rs104895431 | 
| gwascentral | rs104895431 | 
| openSNP | rs104895431 | 
| 23andMe | rs104895431 | 
| SNPshot | rs104895431 | 
| SNPdbe | rs104895431 | 
| MSV3d | rs104895431 | 
| GWAS Ctlg | rs104895431 | 
| Max Magnitude | 0 | 
NOD2 SNP, aka S431L
One of 11 SNPs used in a genetic risk score for inflammatory bowel disease [PMID 27802154
]
| ClinVar | |
|---|---|
| Risk | rs104895431(T;T) | 
| Alt | rs104895431(T;T) | 
| Reference | Rs104895431(C;C) | 
| 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.50745114C>T | 
| CLNSRC | UniProtKB (protein) | 
| CLNACC | RCV000084081.1, RCV000322747.1, | 
