rs281865433
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs281865433(GA;TT) |
Make rs281865433(TT;TT) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 102855294 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs281865433 |
dbSNP (classic) | rs281865433 |
ClinGen | rs281865433 |
ebi | rs281865433 |
HLI | rs281865433 |
Exac | rs281865433 |
Gnomad | rs281865433 |
Varsome | rs281865433 |
LitVar | rs281865433 |
Map | rs281865433 |
PheGenI | rs281865433 |
Biobank | rs281865433 |
1000 genomes | rs281865433 |
hgdp | rs281865433 |
ensembl | rs281865433 |
geneview | rs281865433 |
scholar | rs281865433 |
rs281865433 | |
pharmgkb | rs281865433 |
gwascentral | rs281865433 |
openSNP | rs281865433 |
23andMe | rs281865433 |
SNPshot | rs281865433 |
SNPdbe | rs281865433 |
MSV3d | rs281865433 |
GWAS Ctlg | rs281865433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865433(TT;TT) |
Alt | rs281865433(TT;TT) |
Reference | Rs281865433(GA;GA) |
Significance | Probable-Pathogenic |
Disease | Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103249072_103249073delTCinsAA |
CLNSRC | ClinVar |
CLNACC | RCV000106359.1, |