rs199751308
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (A;A) | 0 | common in clinvar | 
| Make rs199751308(A;G) | 
| Make rs199751308(G;G) | 
| Reference | GRCh38.p7 38.3/150 | 
| Chromosome | 9 | 
| Position | 130489423 | 
| Gene | ASS1 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs199751308 | 
| dbSNP (classic) | rs199751308 | 
| ClinGen | rs199751308 | 
| ebi | rs199751308 | 
| HLI | rs199751308 | 
| Exac | rs199751308 | 
| Gnomad | rs199751308 | 
| Varsome | rs199751308 | 
| LitVar | rs199751308 | 
| Map | rs199751308 | 
| PheGenI | rs199751308 | 
| Biobank | rs199751308 | 
| 1000 genomes | rs199751308 | 
| hgdp | rs199751308 | 
| ensembl | rs199751308 | 
| geneview | rs199751308 | 
| scholar | rs199751308 | 
| rs199751308 | |
| pharmgkb | rs199751308 | 
| gwascentral | rs199751308 | 
| openSNP | rs199751308 | 
| 23andMe | rs199751308 | 
| SNPshot | rs199751308 | 
| SNPdbe | rs199751308 | 
| MSV3d | rs199751308 | 
| GWAS Ctlg | rs199751308 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs199751308(G;G) | 
| Alt | rs199751308(G;G) | 
| Reference | Rs199751308(A;A) | 
| Significance | Probable-Pathogenic | 
| Disease | Citrullinemia type I not provided | 
| Variation | info | 
| Gene | ASS1 | 
| CLNDBN | Citrullinemia type I not provided | 
| Reversed | 0 | 
| HGVS | NC_000009.11:g.133364810A>G | 
| CLNSRC | |
| CLNACC | RCV000286574.1, RCV000413247.1, | 


