rs62642906
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 3 | Carrier of a phenylketonuria mutation |
Make rs62642906(-;-) |
Make rs62642906(CT;CT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102917083 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62642906 |
dbSNP (classic) | rs62642906 |
ClinGen | rs62642906 |
ebi | rs62642906 |
HLI | rs62642906 |
Exac | rs62642906 |
Gnomad | rs62642906 |
Varsome | rs62642906 |
LitVar | rs62642906 |
Map | rs62642906 |
PheGenI | rs62642906 |
Biobank | rs62642906 |
1000 genomes | rs62642906 |
hgdp | rs62642906 |
ensembl | rs62642906 |
geneview | rs62642906 |
scholar | rs62642906 |
rs62642906 | |
pharmgkb | rs62642906 |
gwascentral | rs62642906 |
openSNP | rs62642906 |
23andMe | rs62642906 |
SNPshot | rs62642906 |
SNPdbe | rs62642906 |
MSV3d | rs62642906 |
GWAS Ctlg | rs62642906 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62642906(-;-) |
Alt | rs62642906(-;-) |
Reference | rs62642906(CT;CT) |
Significance | Other |
Disease | not provided Phenylketonuria |
Variation | info |
Gene | PAH |
CLNDBN | not provided Phenylketonuria |
Reversed | 1 |
HGVS | NC_000012.11:g.103310861_103310862delAG |
CLNSRC | HGMD |
CLNACC | RCV000088944.1, RCV000153638.5, |