rs63581460
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a phenylketonuria mutation |
(G;G) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs63581460(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102844377 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs63581460 |
dbSNP (classic) | rs63581460 |
ClinGen | rs63581460 |
ebi | rs63581460 |
HLI | rs63581460 |
Exac | rs63581460 |
Gnomad | rs63581460 |
Varsome | rs63581460 |
LitVar | rs63581460 |
Map | rs63581460 |
PheGenI | rs63581460 |
Biobank | rs63581460 |
1000 genomes | rs63581460 |
hgdp | rs63581460 |
ensembl | rs63581460 |
geneview | rs63581460 |
scholar | rs63581460 |
rs63581460 | |
pharmgkb | rs63581460 |
gwascentral | rs63581460 |
openSNP | rs63581460 |
23andMe | rs63581460 |
SNPshot | rs63581460 |
SNPdbe | rs63581460 |
MSV3d | rs63581460 |
GWAS Ctlg | rs63581460 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs63581460(-;-) |
Alt | rs63581460(-;-) |
Reference | Rs63581460(G;G) |
Significance | Pathogenic |
Disease | not provided Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | not provided Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103238155delC |
CLNSRC | |
CLNACC | RCV000088706.2, RCV000412182.1, |