rs62516063
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of a phenylketonuria mutation |
(G;G) | 0 | common in clinvar |
Make rs62516063(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102844363 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62516063 |
dbSNP (classic) | rs62516063 |
ClinGen | rs62516063 |
ebi | rs62516063 |
HLI | rs62516063 |
Exac | rs62516063 |
Gnomad | rs62516063 |
Varsome | rs62516063 |
LitVar | rs62516063 |
Map | rs62516063 |
PheGenI | rs62516063 |
Biobank | rs62516063 |
1000 genomes | rs62516063 |
hgdp | rs62516063 |
ensembl | rs62516063 |
geneview | rs62516063 |
scholar | rs62516063 |
rs62516063 | |
pharmgkb | rs62516063 |
gwascentral | rs62516063 |
openSNP | rs62516063 |
23andMe | rs62516063 |
SNPshot | rs62516063 |
SNPdbe | rs62516063 |
MSV3d | rs62516063 |
GWAS Ctlg | rs62516063 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62516063(-;-) |
Alt | rs62516063(-;-) |
Reference | Rs62516063(G;G) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103238141delC |
CLNSRC | |
CLNACC | RCV000088718.1, |