rs778154939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Make rs778154939(A;A) |
Make rs778154939(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102852857 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs778154939 |
dbSNP (classic) | rs778154939 |
ClinGen | rs778154939 |
ebi | rs778154939 |
HLI | rs778154939 |
Exac | rs778154939 |
Gnomad | rs778154939 |
Varsome | rs778154939 |
LitVar | rs778154939 |
Map | rs778154939 |
PheGenI | rs778154939 |
Biobank | rs778154939 |
1000 genomes | rs778154939 |
hgdp | rs778154939 |
ensembl | rs778154939 |
geneview | rs778154939 |
scholar | rs778154939 |
rs778154939 | |
pharmgkb | rs778154939 |
gwascentral | rs778154939 |
openSNP | rs778154939 |
23andMe | rs778154939 |
SNPshot | rs778154939 |
SNPdbe | rs778154939 |
MSV3d | rs778154939 |
GWAS Ctlg | rs778154939 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs778154939(A;A) |
Alt | rs778154939(A;A) |
Reference | Rs778154939(T;T) |
Significance | Probable-Pathogenic |
Disease | Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria |
Reversed | 0 |
HGVS | NC_000012.11:g.103246635T>A |
CLNSRC | |
CLNACC | RCV000210763.1, |