rs377280518
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 6 |
| Position | 131583862 |
| Gene | ARG1, MED23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs377280518 |
| dbSNP (classic) | rs377280518 |
| ClinGen | rs377280518 |
| ebi | rs377280518 |
| HLI | rs377280518 |
| Exac | rs377280518 |
| Gnomad | rs377280518 |
| Varsome | rs377280518 |
| LitVar | rs377280518 |
| Map | rs377280518 |
| PheGenI | rs377280518 |
| Biobank | rs377280518 |
| 1000 genomes | rs377280518 |
| hgdp | rs377280518 |
| ensembl | rs377280518 |
| geneview | rs377280518 |
| scholar | rs377280518 |
| rs377280518 | |
| pharmgkb | rs377280518 |
| gwascentral | rs377280518 |
| openSNP | rs377280518 |
| 23andMe | rs377280518 |
| SNPshot | rs377280518 |
| SNPdbe | rs377280518 |
| MSV3d | rs377280518 |
| GWAS Ctlg | rs377280518 |
| Max Magnitude | 0 |
rs377280518, also known as c.G923A, c.1002G>A, Arg308Gln or R308Q, represents a variant in the ARG1 gene on chromosome 6.
Two publications have implicated the rs377280518(A) allele as a recessive mutation associated with argininemia (also known as hyperargininemia; OMIM 207800).[PMID 22959135],[PMID 24482476
]
