rs751930594
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (A;A) | 0 | common in clinvar | 
| Make rs751930594(A;G) | 
| Make rs751930594(G;G) | 
| Reference | GRCh38.p2 38.2/146 | 
| Chromosome | 9 | 
| Position | 130466723 | 
| Gene | ASS1 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs751930594 | 
| dbSNP (classic) | rs751930594 | 
| ClinGen | rs751930594 | 
| ebi | rs751930594 | 
| HLI | rs751930594 | 
| Exac | rs751930594 | 
| Gnomad | rs751930594 | 
| Varsome | rs751930594 | 
| LitVar | rs751930594 | 
| Map | rs751930594 | 
| PheGenI | rs751930594 | 
| Biobank | rs751930594 | 
| 1000 genomes | rs751930594 | 
| hgdp | rs751930594 | 
| ensembl | rs751930594 | 
| geneview | rs751930594 | 
| scholar | rs751930594 | 
| rs751930594 | |
| pharmgkb | rs751930594 | 
| gwascentral | rs751930594 | 
| openSNP | rs751930594 | 
| 23andMe | rs751930594 | 
| SNPshot | rs751930594 | 
| SNPdbe | rs751930594 | 
| MSV3d | rs751930594 | 
| GWAS Ctlg | rs751930594 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs751930594(G;G) rs751930594(T;T) | 
| Alt | rs751930594(G;G) rs751930594(T;T) | 
| Reference | Rs751930594(A;A) | 
| Significance | Pathogenic | 
| Disease | Citrullinemia type I | 
| Variation | info | 
| Gene | ASS1 | 
| CLNDBN | Citrullinemia type I | 
| Reversed | 0 | 
| HGVS | NC_000009.11:g.133342110A>G | 
| CLNSRC | |
| CLNACC | RCV000179704.1, | 


