rs62516061
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a phenylketonuria mutation |
Make rs62516061(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102844395 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62516061 |
dbSNP (classic) | rs62516061 |
ClinGen | rs62516061 |
ebi | rs62516061 |
HLI | rs62516061 |
Exac | rs62516061 |
Gnomad | rs62516061 |
Varsome | rs62516061 |
LitVar | rs62516061 |
Map | rs62516061 |
PheGenI | rs62516061 |
Biobank | rs62516061 |
1000 genomes | rs62516061 |
hgdp | rs62516061 |
ensembl | rs62516061 |
geneview | rs62516061 |
scholar | rs62516061 |
rs62516061 | |
pharmgkb | rs62516061 |
gwascentral | rs62516061 |
openSNP | rs62516061 |
23andMe | rs62516061 |
SNPshot | rs62516061 |
SNPdbe | rs62516061 |
MSV3d | rs62516061 |
GWAS Ctlg | rs62516061 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62516061(G;G) rs62516061(T;T) |
Alt | rs62516061(G;G) rs62516061(T;T) |
Reference | Rs62516061(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103238173G>A |
CLNSRC | |
CLNACC | RCV000088696.1, |