rs62508752
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs62508752(A;G) |
Make rs62508752(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 102852861 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62508752 |
dbSNP (classic) | rs62508752 |
ClinGen | rs62508752 |
ebi | rs62508752 |
HLI | rs62508752 |
Exac | rs62508752 |
Gnomad | rs62508752 |
Varsome | rs62508752 |
LitVar | rs62508752 |
Map | rs62508752 |
PheGenI | rs62508752 |
Biobank | rs62508752 |
1000 genomes | rs62508752 |
hgdp | rs62508752 |
ensembl | rs62508752 |
geneview | rs62508752 |
scholar | rs62508752 |
rs62508752 | |
pharmgkb | rs62508752 |
gwascentral | rs62508752 |
openSNP | rs62508752 |
23andMe | rs62508752 |
SNPshot | rs62508752 |
SNPdbe | rs62508752 |
MSV3d | rs62508752 |
GWAS Ctlg | rs62508752 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62508752(C;C) rs62508752(G;G) |
Alt | rs62508752(C;C) rs62508752(G;G) |
Reference | Rs62508752(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | not provided Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103246639T>C; NC_000012.11:g.103246639T>G |
CLNSRC | ClinVar DeBelle Laboratory for Biochemical Genetics |
CLNACC | RCV000089096.1, RCV000106367.1, |