rs796064501
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796064501(A;A) |
Make rs796064501(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 102844376 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs796064501 |
dbSNP (classic) | rs796064501 |
ClinGen | rs796064501 |
ebi | rs796064501 |
HLI | rs796064501 |
Exac | rs796064501 |
Gnomad | rs796064501 |
Varsome | rs796064501 |
LitVar | rs796064501 |
Map | rs796064501 |
PheGenI | rs796064501 |
Biobank | rs796064501 |
1000 genomes | rs796064501 |
hgdp | rs796064501 |
ensembl | rs796064501 |
geneview | rs796064501 |
scholar | rs796064501 |
rs796064501 | |
pharmgkb | rs796064501 |
gwascentral | rs796064501 |
openSNP | rs796064501 |
23andMe | rs796064501 |
SNPshot | rs796064501 |
SNPdbe | rs796064501 |
MSV3d | rs796064501 |
GWAS Ctlg | rs796064501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796064501(A;A) |
Alt | rs796064501(A;A) |
Reference | Rs796064501(C;C) |
Significance | Probable-Pathogenic |
Disease | Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103238154G>T |
CLNSRC | |
CLNACC | RCV000190375.1, |