rs62508588
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6 | Phenyketonuria |
(A;G) | 3 | Carrier of a phenylketonuria mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 102852929 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62508588 |
dbSNP (classic) | rs62508588 |
ClinGen | rs62508588 |
ebi | rs62508588 |
HLI | rs62508588 |
Exac | rs62508588 |
Gnomad | rs62508588 |
Varsome | rs62508588 |
LitVar | rs62508588 |
Map | rs62508588 |
PheGenI | rs62508588 |
Biobank | rs62508588 |
1000 genomes | rs62508588 |
hgdp | rs62508588 |
ensembl | rs62508588 |
geneview | rs62508588 |
scholar | rs62508588 |
rs62508588 | |
pharmgkb | rs62508588 |
gwascentral | rs62508588 |
openSNP | rs62508588 |
23andMe | rs62508588 |
SNPshot | rs62508588 |
SNPdbe | rs62508588 |
MSV3d | rs62508588 |
GWAS Ctlg | rs62508588 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | Rs62508588(A;A) rs62508588(T;T) |
Alt | Rs62508588(A;A) rs62508588(T;T) |
Reference | Rs62508588(G;G) |
Significance | Pathogenic |
Disease | not provided Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | not provided Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103246707C>A; NC_000012.11:g.103246707C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000089060.1, RCV000000622.4, RCV000089059.3, |