rs199475698
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a phenylketonuria mutation |
| (C;T) | 3 | Carrier of a phenylketonuria mutation |
| (T;T) | 0 | common in clinvar |
| Make rs199475698(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 102877456 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199475698 |
| dbSNP (classic) | rs199475698 |
| ClinGen | rs199475698 |
| ebi | rs199475698 |
| HLI | rs199475698 |
| Exac | rs199475698 |
| Gnomad | rs199475698 |
| Varsome | rs199475698 |
| LitVar | rs199475698 |
| Map | rs199475698 |
| PheGenI | rs199475698 |
| Biobank | rs199475698 |
| 1000 genomes | rs199475698 |
| hgdp | rs199475698 |
| ensembl | rs199475698 |
| geneview | rs199475698 |
| scholar | rs199475698 |
| rs199475698 | |
| pharmgkb | rs199475698 |
| gwascentral | rs199475698 |
| openSNP | rs199475698 |
| 23andMe | rs199475698 |
| SNPshot | rs199475698 |
| SNPdbe | rs199475698 |
| MSV3d | rs199475698 |
| GWAS Ctlg | rs199475698 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs199475698(A;A) rs199475698(C;C) |
| Alt | rs199475698(A;A) rs199475698(C;C) |
| Reference | Rs199475698(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103271234A>G; NC_000012.11:g.103271234A>T |
| CLNSRC | ClinVar DeBelle Laboratory for Biochemical Genetics |
| CLNACC | RCV000088923.1, RCV000106356.1, |
