rs62516142
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62516142(C;C) |
Make rs62516142(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 102843665 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62516142 |
dbSNP (classic) | rs62516142 |
ClinGen | rs62516142 |
ebi | rs62516142 |
HLI | rs62516142 |
Exac | rs62516142 |
Gnomad | rs62516142 |
Varsome | rs62516142 |
LitVar | rs62516142 |
Map | rs62516142 |
PheGenI | rs62516142 |
Biobank | rs62516142 |
1000 genomes | rs62516142 |
hgdp | rs62516142 |
ensembl | rs62516142 |
geneview | rs62516142 |
scholar | rs62516142 |
rs62516142 | |
pharmgkb | rs62516142 |
gwascentral | rs62516142 |
openSNP | rs62516142 |
23andMe | rs62516142 |
SNPshot | rs62516142 |
SNPdbe | rs62516142 |
MSV3d | rs62516142 |
GWAS Ctlg | rs62516142 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62516142(C;C) rs62516142(T;T) |
Alt | rs62516142(C;C) rs62516142(T;T) |
Reference | Rs62516142(G;G) |
Significance | Probable-Pathogenic |
Disease | Phenylketonuria not provided |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103237443C>A; NC_000012.11:g.103237443C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000106343.1, RCV000088779.1, |