rs140945592
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a phenylketonuria mutation |
| (C;C) | 0 | common in clinvar |
| Make rs140945592(C;T) |
| Make rs140945592(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 102894918 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140945592 |
| dbSNP (classic) | rs140945592 |
| ClinGen | rs140945592 |
| ebi | rs140945592 |
| HLI | rs140945592 |
| Exac | rs140945592 |
| Gnomad | rs140945592 |
| Varsome | rs140945592 |
| LitVar | rs140945592 |
| Map | rs140945592 |
| PheGenI | rs140945592 |
| Biobank | rs140945592 |
| 1000 genomes | rs140945592 |
| hgdp | rs140945592 |
| ensembl | rs140945592 |
| geneview | rs140945592 |
| scholar | rs140945592 |
| rs140945592 | |
| pharmgkb | rs140945592 |
| gwascentral | rs140945592 |
| openSNP | rs140945592 |
| 23andMe | rs140945592 |
| SNPshot | rs140945592 |
| SNPdbe | rs140945592 |
| MSV3d | rs140945592 |
| GWAS Ctlg | rs140945592 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs140945592(A;A) rs140945592(T;T) |
| Alt | rs140945592(A;A) rs140945592(T;T) |
| Reference | Rs140945592(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Phenylketonuria not specified |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.103288696C>A; NC_000012.11:g.103288696C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000106349.1, RCV000078515.5, |
