rs62507267
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TTT) | 3 | Carrier of a phenylketonuria mutation |
(TTT;TTT) | 0 | common in clinvar |
Make rs62507267(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102851702 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62507267 |
dbSNP (classic) | rs62507267 |
ClinGen | rs62507267 |
ebi | rs62507267 |
HLI | rs62507267 |
Exac | rs62507267 |
Gnomad | rs62507267 |
Varsome | rs62507267 |
LitVar | rs62507267 |
Map | rs62507267 |
PheGenI | rs62507267 |
Biobank | rs62507267 |
1000 genomes | rs62507267 |
hgdp | rs62507267 |
ensembl | rs62507267 |
geneview | rs62507267 |
scholar | rs62507267 |
rs62507267 | |
pharmgkb | rs62507267 |
gwascentral | rs62507267 |
openSNP | rs62507267 |
23andMe | rs62507267 |
SNPshot | rs62507267 |
SNPdbe | rs62507267 |
MSV3d | rs62507267 |
GWAS Ctlg | rs62507267 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62507267(-;-) |
Alt | rs62507267(-;-) |
Reference | Rs62507267(TTT;TTT) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103245480_103245482delAAA |
CLNSRC | |
CLNACC | RCV000089147.1, |