rs35269064
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (T;T) | likely miscall in Ancestry V2.0 datasets; otherwise, see ClinVar information |
| Make rs35269064(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 130458549 |
| Gene | ASS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35269064 |
| dbSNP (classic) | rs35269064 |
| ClinGen | rs35269064 |
| ebi | rs35269064 |
| HLI | rs35269064 |
| Exac | rs35269064 |
| Gnomad | rs35269064 |
| Varsome | rs35269064 |
| LitVar | rs35269064 |
| Map | rs35269064 |
| PheGenI | rs35269064 |
| Biobank | rs35269064 |
| 1000 genomes | rs35269064 |
| hgdp | rs35269064 |
| ensembl | rs35269064 |
| geneview | rs35269064 |
| scholar | rs35269064 |
| rs35269064 | |
| pharmgkb | rs35269064 |
| gwascentral | rs35269064 |
| openSNP | rs35269064 |
| 23andMe | rs35269064 |
| SNPshot | rs35269064 |
| SNPdbe | rs35269064 |
| MSV3d | rs35269064 |
| GWAS Ctlg | rs35269064 |
| GMAF | 0.004591 |
| Max Magnitude | 0 |
As of June 2016, this SNP appears to be prone to miscalling in AncestryDNA V2.0 datasets.
Minor allele should be reclassified as benign according to [PMID 26990548
]
| ClinVar | |
|---|---|
| Risk | rs35269064(A;A) Rs35269064(T;T) |
| Alt | rs35269064(A;A) Rs35269064(T;T) |
| Reference | Rs35269064(G;G) |
| Significance | Pathogenic |
| Disease | Citrullinemia type I not specified |
| Variation | info |
| Gene | ASS1 |
| CLNDBN | Citrullinemia type I not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.133333936G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006706.5, RCV000256315.1, RCV000436562.1, |
