rs794727619
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a phenylketonuria mutation |
(C;C) | 0 | common in clinvar |
Make rs794727619(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 102877546 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs794727619 |
dbSNP (classic) | rs794727619 |
ClinGen | rs794727619 |
ebi | rs794727619 |
HLI | rs794727619 |
Exac | rs794727619 |
Gnomad | rs794727619 |
Varsome | rs794727619 |
LitVar | rs794727619 |
Map | rs794727619 |
PheGenI | rs794727619 |
Biobank | rs794727619 |
1000 genomes | rs794727619 |
hgdp | rs794727619 |
ensembl | rs794727619 |
geneview | rs794727619 |
scholar | rs794727619 |
rs794727619 | |
pharmgkb | rs794727619 |
gwascentral | rs794727619 |
openSNP | rs794727619 |
23andMe | rs794727619 |
SNPshot | rs794727619 |
SNPdbe | rs794727619 |
MSV3d | rs794727619 |
GWAS Ctlg | rs794727619 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs794727619(-;-) |
Alt | rs794727619(-;-) |
Reference | Rs794727619(C;C) |
Significance | Pathogenic |
Disease | Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103271324delG |
CLNSRC | |
CLNACC | RCV000178065.1, |