rs763389916
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (C;C) | 0 | common in clinvar | 
| Make rs763389916(C;T) | 
| Make rs763389916(T;T) | 
| Reference | GRCh38.p7 38.3/149 | 
| Chromosome | 9 | 
| Position | 130479849 | 
| Gene | ASS1 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs763389916 | 
| dbSNP (classic) | rs763389916 | 
| ClinGen | rs763389916 | 
| ebi | rs763389916 | 
| HLI | rs763389916 | 
| Exac | rs763389916 | 
| Gnomad | rs763389916 | 
| Varsome | rs763389916 | 
| LitVar | rs763389916 | 
| Map | rs763389916 | 
| PheGenI | rs763389916 | 
| Biobank | rs763389916 | 
| 1000 genomes | rs763389916 | 
| hgdp | rs763389916 | 
| ensembl | rs763389916 | 
| geneview | rs763389916 | 
| scholar | rs763389916 | 
| rs763389916 | |
| pharmgkb | rs763389916 | 
| gwascentral | rs763389916 | 
| openSNP | rs763389916 | 
| 23andMe | rs763389916 | 
| SNPshot | rs763389916 | 
| SNPdbe | rs763389916 | 
| MSV3d | rs763389916 | 
| GWAS Ctlg | rs763389916 | 
| Max Magnitude | 0 | 
| ClinVar | |
|---|---|
| Risk | rs763389916(T;T) | 
| Alt | rs763389916(T;T) | 
| Reference | Rs763389916(C;C) | 
| Significance | Pathogenic | 
| Disease | Citrullinemia type I | 
| Variation | info | 
| Gene | ASS1 | 
| CLNDBN | Citrullinemia type I | 
| Reversed | 0 | 
| HGVS | NC_000009.11:g.133355236C>T | 
| CLNSRC | |
| CLNACC | RCV000256264.1, | 


